European Human Genetics Conference 2017 Programme

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Visit us at stand 140 and discover how our portfolio of next-generation sequencing (NGS), microarray and informatic solutions can help empower your next breakthrough. EUROPEAN HUMAN Come learn how you can become a part of the scienti c innovation happening in: GENETICS CONFERENCE 2017 • Complex Diseases • Rare or Undiagnosed Genetic Diseases Bella Center | Copenhagen, Denmark | May 27 - 30 • Reproductive Health • Cancer Genetics • Microbiology

Experience the NovaSeq™ Series Discover a leap forward in technology by attending one of our stand presentations, or take a virtual reality tour.

www.illumina.com Programme For Research Use Only. Not for use in diagnostic procedures. © 2017 Illumina, Inc. All rights reserved. European Society www.eshg.org @eshgsociety of Human Genetics facebook.com/eshg.org #eshg2017 GENERAL FLOORPLAN METRO Ground Floor

Ballerup

LECTURE HALLS B - CORPORATE SATELLITES

Berlin Barcelona Brussels Birmingham Belgrade

WC WC WC WC Bags Registration

CENTERHALL

Exhibition Service WC Athens Lead Retrieval Poster Printing LECTURE HALLS A Cambridge Gastro Café Exhibition

Aarhus Centre Coffee & Lunch Preview Copenhagen Cash Bar MAIN LOBBY Live Stream Posters

Amsterdam E-Posters WC AC Hotel FOYER

Bella Sky LECTURE HALLS C Main Entrance Cannes

Cologne

First Floor 5

Athens CENTERHALL

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WC 18 25 A Aarhus 18 19 20

LECTURE HALLS A Amsterdam MAIN LOBBY

FOYER

Ancona conf. 1st Antwerp LOBBY Alicante

2 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 2 THE EUROPEAN SOCIETY OF HUMAN GENETICS

EUROPEAN HUMAN GENETICS CONFERENCE 2017 Bella Center | Copenhagen, Denmark | May 27 - 30

PROGRAMME

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 3 GENERAL TABLE OF CONTENTS

General GENERAL Floorplan of the Bella Center...... 2 Welcoming Address...... 5 Committees - Board - Organisation...... 6 Acknowledgements...... 7 Future ESHG Conferences...... 7 CME Credits...... 7 Get the Most out of ESHG 2017...... 8 SATURDAY Session Type Description...... 9 Programme at a Glance...... 10 Poster Topics...... 14 Information for Presenters of Posters and Talks...... 14

SUNDAY ESHG Scientific Programme - Saturday, May 27...... 15 - Sunday, May 28...... 21 - Monday, May 29...... 29 - Tuesday, May 30...... 37

MONDAY Programme Information Corporate Satellite Meetings...... 45 Business and Ancillary Meetings...... 54 ESHG Award and Mendel Lecturers...... 55 ESHG Award Lecturer Interview...... 56 ESHG Young Investigator Awards...... 57 Young Investigator Award Candidates, Presentation and Interviews...... 58

TUESDAY Poster Award Candidates, Presentation and Interviews...... 72

Information General Information...... 79 Registration Fees...... 83 Networking Events...... 84

SATELLITES List of Exhibitors...... 84 Exhibition Floor Plan...... 85 Exhibition Information (see the Exhibition Catalogue for more information)...... 86 AWARDS INFORMATION

4 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG GENERAL WELCOMING ADDRESS GENERAL

Dear Colleagues and Friends,

On behalf of the board of the European Society of Human Genetics, I would like to cordially welcome you to the European Human Genetics Conference 2017 in Copenhagen, Denmark.

The ESHG 2017 marks the 50 Anniversary of the first ESHG Conference which took place in SATURDAY Copenhagen in 1967. In commemoration of this event, we have chosen the Bella Center in Denmark’s capital as the venue for our meeting.

Denmark is not only renowned for the Little Mermaid, Hans Christian Andersen and Niels Bohr, but also for Danish Design and the “New Nordic Cuisine”. Landing at Copenhagen airport, you will have a wonderful view of “The Bridge” connecting Denmark and Sweden. Copenhagen is one of the most vivid cities in northern Europe, although it is also referred to as Northern Europe’s cosiest capital; a city full of street cafés, design shops and some of the best restaurants in Scandinavia. From the winding streets of the beautiful old town and the grand royal palaces to the city’s cutting-edge buildings and attractions, Copenhagen is a great mix of the old and SUNDAY the new world.

Copenhagen is also known for being an international hub for science. It is number one in Europe in terms of clinical trials per capita and number two in the world for developing biotechnology. In fact, COBIS, the Copenhagen Bio Science Park, was named the world’s best biotech incubator in 2011. Furthermore, the newly built Copenhagen Science City with its Niels Bohr Building are significant investments of the Danish government to enhance science and to attract the world’s best scientists. MONDAY

The combination of history, culture and science led us to choose Copenhagen as the best place to celebrate our 50th Anniversary. Among other highlights, the ESHG 2017 conference provides the latest findings in the field of basic and applied human genetics. Thanks to the excellent programme committee selecting the best speakers and outstanding presentations we are looking forward to a highly inspirational meeting.

Velkommen til København!

Olaf Riess, MD TUESDAY President European Society of Human Genetics SATELLITES AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 5 GENERAL COMMITTEES - BOARD - ORGANISATION European Society of Human Genetics

Executive Board 2016-2017 Scientific Programme Committee GENERAL President Chair Olaf Riess, DE Joris Veltman, NL President-Elect Members Christine Patch, UK Yanick Crow, FR Sam Riedijk, NL Helene Dollfus, IT Samuli Ripatti, FI Vice-President Francesca Forzano, Observer, IT Olaug K. Rødningen, NO Feliciano Ramos, ES Brunella Franco, IT Maria Jesus Sobrido, ES Secretary-General Lude Franke, NL Malte Spielmann, DE

SATURDAY Karin Writzl, SI Cecilia Gunnarsson, SE Minna Helena Toivonen, FI Deputy Secretary-General Gunnar Houge, Deputy Secr-General, NO Asuman Zeynep Tümer, DK Gunnar Houge, NO Erik Iwarsson, SE Enza Maria Valente, IT Xavier Jeunemaitre, FR Kristel Van Steen, BE Treasurer Conxi Lazaro, ES Joris Veltman, Chair, NL Andrew Read, UK Jose C. Machado, PT Thierry Voet, BE Executive Officer William Newman, UK Brunhilde Wirth, DE Jerome del Picchia, AT Lucy Raymond, UK Karin Writzl, Secretary-General, SI Alexandre Reymond, CH Advisor: Jerome del Picchia, AT SUNDAY

Annual Meetings Committee 2016-2017 President Members Observers Andrew Read, UK Gunnar Houge, NO Jerome del Picchia, AT Christine Patch, UK Jantie de Roos, NL Feliciano Ramos, ES Kristina Libova, AT Olaf Riess, DE Flora van Laer, NL Karin Writzl, SI MONDAY Board Members Liaison Members Kristiina Aittomäki, FI Robert Hofstra, NL Han Brunner, NL Yasemin Alanay, TR Dorit Lev, IL Christophe Cordier, CH Pascal Borry, BE Stan Lyonnet, FR Martina Cornel, NL Martijn Breuning, NL Julie McGaughran, AU Ulf Kristofferssen, SE Han Brunner, NL Will Newman, UK Thomas Liehr, DE Isabella Ceccherini, IT Markus Nöthen, DE Milan Macek Jr., CZ

TUESDAY Angus John Clarke, UK Dijana Plaseska-Karanfilska, MK Bela Melegh, HU Jill Clayton-Smith, UK Trine E. Prescott, NO Ramona Moldovan, RO Johan den Dunnen, NL Inga Prokopenko, UK Milena Paneque, PT Koen Devriendt, BE André Reis, DE Hans Scheffer, NL Munis Dundar, TR Hans Scheffer, NL Heather Skirton, UK Francesca Forzano, IT Zeynep Tümer, DK GertJan B. van Ommen, NL Joris Veltman, NL Brunhilde Wirth, DE

ESHG Office SATELLITES European Society of Human Genetics c/o Vienna Medical Academy T: +43 1 405 13 83 35 or 20 Andrea Robinson Alser Strasse 4, 1090 Vienna, AT F: +43 1 407 82 74 Karin Knob www.eshg.org E: [email protected], [email protected] European Human Genetics Conference 2017

Conference Organisation and Abstract Exhibition, Sponsoring and Corporate Hotel Accommodation Management Satellites MCI Copenhagen A/S AWARDS ESHG 2017 Congress Office ROSE International c/o MCI Nordics c/o Vienna Medical Academy Exhibition Management and Congress Strandvejen 169 – 171 Kristina Libova Consultancy bv 2900 Hellerup, DK Alser Strasse 4, 1090 Vienna, AT Jantie de Roos, Flora van Laer T: +46 8 5465 1500 T: +43 1 405 13 83 11 P.O. Box 93260 E: [email protected] F: +43 1 407 82 74 2509 AG The Hague, NL E: [email protected] T: +31 70 383 8901 www.medacad.org F: +31 70 381 8936 E: [email protected] www.rose-international.com INFORMATION

6 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG GENERAL ACKNOWLEDGEMENTS-FUTURE MEETINGS GENERAL The European Human Genetics Conference gratefully acknowledges the support of the following companies (list correct as per date of printing):

10x Genomics Fabric Genomics Promega Agilent Technologies Face2Gene QIAGEN Asuragen Illumina Repositive BD Life Sciences Integrated DNA Technologies Roche Sequencing Solutions

BGI Lexogen Sekusiu Diagnostics SATURDAY Bluebee Leymus Genetics Sistemas Genómicos Blueprint Genetics LGC Genomics Sophia Genetics Canon BioMedical Multiplicom Springer Nature Centogene NanoString Technologies TheragenEtex Congenica NimaGen Thermo Fisher Scientific Covaris NIPD Genetics Wiley Elsevier Pacific Biosciences Enzo Life Sciences Progeny Genetics SUNDAY Future European Human Genetics Conferences

European Human Genetics Conference 2018 Milan, Italy June 16 – 19, 2018

European Human Genetics Conference 2019 Gothenburg, Sweden June 15 – 18, 2019 MONDAY

European Human Genetics Conference 2020 Berlin, Germany June 6 – 9, 2020

CME Credits The European Society of Human Genetics is accredited by the European Accreditation Council for Continuing Medical Education (EACCME) to TUESDAY provide the following CME activity for medical specialists. The EACCME is an institution of the European Union of Medical Specialists (UEMS), www.uems.net.

The European Human Genetics Conference 2017 is designated for a maximum of 22 hours of European external CME credits. Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity.

EACCME credits are recognized by the American Medical Association towards the Physician‘s Recognition Award (PRA). To convert EACCME it to AMA PRA category 1 credit, contact the AMA. SATELLITES

Download the ESHG 2017 Conference App AWARDS for iOS for Android INFORMATION

IMPORTANT NOTICE Please note that taking pictures or filming during the sessions is forbidden (no matter if done with a camera or a mobile phone). Persons who will not observe this rule will be excluded from the session by the chairpersons.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 7 GENERAL GET THE MOST OUT OF THE ESHG 2017 Get the most out of your ESHG Meeting!

We are glad to announce the following features which might contribute to your positive experience of the ESHG conference. GENERAL The ESHG 2017 Congress App Do you always want to be up-to-date? The ESHG Congress App will guide you through the programme day by day or by session type, will show available profiles of the speakers and help you to find exhibitors by name or by service provided. Add papers or entire sessions to your mobile calendar, receive push messages with important reminders and give feedback on talks or sessions. Our staff at the General Information desk will help you in case of questions. Available for iOS and Android in your App and Play Stores. Search for ESHG 2017 Congress. SATURDAY Commenting Do you have a specific comment on the running presentation? To discuss with colleagues, know that many attendees will be using twitter with the hashtags #eshg2017 #sessionnumber (e.g. #eshg2017 #S01). For all sessions, remember to use the discussion microphones in aisles of the lecture halls to direct your questions to the speakers.

e-Posters & Best Posters SUNDAY For the second time, a number of posters will be presented as e-Posters at 40 e-Poster stations in the exhibition hall. The list of available posters can be viewed on any of these screens. From there, each e-Poster can be selected for viewing. Use the zoom-in, zoom-out function to focus on specific parts of the e-Posters and the navigation icons to browse though the multiple slide posters. This year, the 19 Best Posters were selected for a short oral presentation (2 minutes) in the Concurrent Session C03, on Saturday, May 27, 18.30 - 19.10 hrs. After the presentation of all posters, the authors and the audience will proceed to the electronic posters in front of the lecture hall for discussion with the authors for the remainder of the session. The list of e-Posters is also available on https://2017.eshg.org/index.php/abstracts-2/eposters. MONDAY Live streaming and on-demand webcast of selected sessions For the second time, all Educational Sessions will be available as webcast after the meeting. So in case you are interested in a Symposium and a parallel Educational session, no worries, you can watch it at home or whenever you have time. As usual, the Plenaries on Tuesday (including the Building Bridges Session joint with the ASHG) and the Symposium joint with the European Society of Cardiology (ESC) will be available as live webcast and as on-demand streaming after the conference. The following sessions are planned to be available: - E1-E13 - PL1, PL3, PL4 & PL5 TUESDAY - S15 Note that the actual availability of the individual talks depends on the consent of the speakers.

Live stream in the exhibition The plenary lecture hall is equipped with a live transmission possibility to the Live stream area in the exhibition. The programme of the room Aarhus will be transmitted to this area during exhibition opening hours.

SATELLITES Poster viewing with authors Posters will be discussed in 4 groups (A-D), 10.15 – 11.15 hrs and 16.45 – 17.45 hrs both on Sunday and Monday. We hope that this will stimulate the interaction at the posters and increase convenience for the presenters. All posters will remain on display from Saturday to Monday during exhibition opening hours.

Young Investigators in Focus AWARDS The workshop 'W11 . Career development and funding opportunities for young investigators' on Sunday aims directly at young investigators attending the conference. Two types of fellowships were allocated to young investigators from European and Non-European countries. In total the ESHG awarded more than 100 fellowships to young investigators in 2017. You might also be interested to know that the Scientific Programme Committee decided to have at least 30% of its members aged under 40 years by 2020. Post-doc Young Investigator Award Winners of 2016 have been invited to co-chair a session at this year's conference. Have a look at this year's candidates on page 55 ff. INFORMATION

8 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG GENERAL SESSION TYPE DESCRIPTIONS GENERAL

Plenary Sessions (PL1 - PL5) The plenary sessions are the most prestigious sessions of the congress. These are exhaustive reviews of major subjects and state of the art techniques within the specialty, addressed to all participants. Speakers in plenary sessions are invited and are among the most renowned in their field of expertise. Plenary sessions are scheduled at “prime time” in the programme, unopposed to other activities in order to achieve maximal attendance. Speaking time varies: 15 minutes for talks in PL2, 30 minutes in PL1 & PL3, and 45 minutes in PL4 & PL5. SATURDAY

Concurrent Symposia (S01 – S16) The symposia are sessions in which invited speakers share new results on a given topic with other researchers. The aim is to reflect and compare data with other, perhaps contradictory, results and to discuss new hypotheses and concepts for further research with well established colleagues. In every concurrent symposium, three 30-minute lectures will be presented. They provide an update and understanding of new developments and innovations in a certain area. SUNDAY

Educational Sessions (E01 – E13) The Scientific Committee of the ESHG determines topics for these 90 minutes sessions which will best serve the educational needs of the attendees. Particular care is taken to ensure that these sessions address basic issues and focus on the educational aspect. These sessions are not intended for experts in the respective fields but are designed to give a general basic introduction to a particular topic. MONDAY

Concurrent Sessions (C01 – C23) The most notable and exciting work from all abstracts submitted to the conference will be honoured with an oral presentation in these sessions. Presenters are expected to explain their work and answer questions from the audience. Speaking time for concurrent session is 15 minutes including time for discussion. Papers marked with an asterisk are candidates for the ESHG Young Investigator Awards. TUESDAY

Poster Viewing with Authors Posters are numerically the major scientific presentations of the meeting. Most attendees bring a poster showing data and progress with their personal research. Posters offer an excellent opportunity for people interested in a particular topic to meet and exchange ideas and network with other researchers. Posters should NOT be used to advertise a product or service. Like a paper, a poster abstract should detail the focus of the presentation and the way(s) in which it contributes to the body of knowledge in its field.

Times marked “Poster Viewing with Authors” should be used for communication and interaction with the poster authors, who are requested SATELLITES to be at their posters at these times. Posters will be on display throughout the conference for free poster viewing (Saturday-Monday). Posters bearing a rosette have received a high score during the peer review process and are considered the best posters submitted by young investigators. They are the candidates for the ESHG poster awards.

Workshops (W01 – W18) Workshops are sessions in which the speakers are expected to share their personal experience in a field (either clinical or basic) with the audience. These sessions are addressed to participants who wish to acquire practical knowledge on a specific subject, and therefore an AWARDS interactive discussion during or at the end of the workshop is expected.

Corporate Satellites (CS01-CS25) INFORMATION There are a number of company satellites planned within the main conference programme. Sponsors are approved as reputable and relevant by the Scientific Programme Committee, but the detailed content of the presentations is proposed directly by the sponsors and under their responsibility. Neither the ESHG nor the organisers have endorsed the content in any way.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 9 GENERAL PROGRAMME AT A GLANCE-SATURDAY GENERAL Belgrade CS02 BD Biosciences Satellite Corporate Satellite Corporate Birmingham CS01 Canon BioMedical Satellite SATURDAY Ancona Sponsored Session Sponsored W04 UCSC Genome Browser SUNDAY Cambridge W03 Rareconnect: rare Connecting disease patient organisations Educational Session Educational Cologne MONDAY C06 ELSI genomics W02 chan - A case that as a life ged my geneticist Workshop Amsterdam Fruit break / Posters / Exhibition / Posters break Fruit Coffee break / Posters / Exhibition Posters / break Coffee C05 Skin and Bones E05 - Imprinting-rela disorders ted TUESDAY Alicante Opening Networking Mixer at the Bella Center (Centerhall, ground floor) ground Opening (Centerhall, Networkingat the Bella Center Mixer Lunch break / Posters / Exhibition / Posters break Lunch

C04 Epigenetics and Gene Regulation E04 Channelopathies Concurrent Session Concurrent SATELLITES Cannes C03 Best Posters Session E03 of 50 Shades Genetics Cancer Symposium Copenhagen AWARDS C02 1 Neurogenetics W01 NGS in the Clinic - Aarhus Opening Welcome Addresses PL1 Opening Plenary Session PL2 New? What’s Highlights Session C01 Personalized Medicine and Pharmaco- genomics Sponsored Sponsored Session E01 Sequencing E02 ge CRISPR/Cas9 nome editing to model disease Plenary Session – – – – – – – – – – Time 20.00 21.45 12.15 13.45 14.00 14.30 14:30 16.00 16:00 16.30 16.30 18.00 18.00 18.30 18.30 20.00 08.15 10.15 10.30 12.00 Saturday, May 27, 2017 May Saturday, INFORMATION Session Types: Session : NOTICE IMPORTANT excluded Persons who will not observerule this be or a mobile phone). if done with a camera taking (no matter that forbidden picturesPlease note or filming during the sessions is the chairpersons. the session by from

10 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG GENERAL PROGRAMME AT A GLANCE-SUNDAY GENERAL Belgrade CS07 Face2Gene Satellite CS12 Multiplicom Satellite CS15 Repositive Satellite SATURDAY Birmingham CS06 NIPD Genetics Satellite CS11 Integrated DNA Technologies Satellite CS14 Congenica Satellite Berlin CS05 QIAGEN Satellite CS10 Bluebee & Lexogen Satellite SUNDAY Brussels CS04 Agilent Technologies Satellite CS09 Sophia Genetics Satellite Ballerup MONDAY CS03 Thermo Fisher Scientific Satellite CS08 Roche Sequencing Solutions Satellite CS13 Illumina Satellite Cologne W11 Career development and funding opportunities young for investigators - TUESDAY Amsterdam E07 Pharmacoge nomics in the clinic C12 Engaging in Patients Genomics W10 Gene Regula - tion E09 Phakomatosis Update Fruit break / Poster viewing / Exhibition / Poster break Fruit - Coffee break / Poster viewing / Exhibition Poster / break Coffee Coffee break / Poster viewing / Exhibition Poster / break Coffee - Poster viewing with presenters and coffee - GROUP B and coffee with presenters viewing Poster Poster viewing with presenters and coffee - GROUP A and coffee with presenters viewing Poster Alicante E06 Bioethics for "dummies" C11 Sensory disor ders W09 Including po diverse in pulations genomics E08 Multi-omics - integra data tion ESHG Membership Meeting SATELLITES - - - Cannes S04 Asso From to ciation Causality in complex diseases C10 Resol - GWAS: ving Missing Causality W08 Pharmacoge nomics S08 techno New in Neu - logies rogenetics - Poster viewing / Lunch break / Exhibition break viewing / Lunch Poster AWARDS S03 Treat Novel Options ment Copenhagen C09 Molecular Mechanisms of Disease W07 Prenatal Diagnosis S07 the Still golden age of chromosomes - - - Athens types S02 One gene, pheno many C08 - Neuromuscu lar Disorders W06 Dysmorpho logy 1 S06 Treatment-fo cused Genetic Testing - - INFORMATION - Aarhus S01 Single Cell From Studies: to technology biology mics techno logies C07 geno Novel phism" using phism" prediction tools W05 Defining "mutation" or "polymor S05 3D genome architecture of disease - – – – – – – – – – – 08.30 10.00 10.00 10.15 10.15 11.15 11.15 12.45 13.00 14.30 14.30 15.00 15.00 16.30 16.30 16.45 16.45 17.45 17.45 19.15 19.15 20.45 Sunday, May 28, 2017 May Sunday, Time

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 11 GENERAL PROGRAMME AT A GLANCE-MONDAY - Barcelona CS25 Fabric Geno mics Satellite GENERAL Belgrade CS24 NimaGen Satellite CS20 Thermo Fisher Scientific Satellite - ham Birming - CS23 Agilent Techno logies Satellite CS19 Sistemas Genómicos Satellite SATURDAY Berlin CS22 10x Genomics Satellite CS18 Asuragen Satellite - Brussels CS21 Nano- String Techno logies Satellite CS17 Centogene Satellite - SUNDAY Ballerup CS16 Agilent Techno logies Satellite Ancona W18 ENSEMBL & GENCODE S16 Autophagy and genetic diseases MONDAY Amsterdam C18 Internal organs W17 Quality ass - in - urance terpretation reporting& in genome wide diagnostics E11 to Strategies sudden avoid death cardiac E13 Network Medicine Antwerp E12 The The E12 evolution of genetic counseling Fruit break / Poster viewing / Exhibition / Poster break Fruit Coffee break / Poster viewing / Exhibition Poster / break Coffee Coffee break / Poster viewing / Exhibition Poster / break Coffee - TUESDAY Poster viewing with presenters and coffee - GROUP C and coffee with presenters viewing Poster Poster viewing with presenters and coffee - GROUP D and coffee with presenters viewing Poster Alicante S15 Polygenic - Cardiovas cular traits C17 Hereditary Cancer W16 Ensuring the quality of genetic counseling S12 Genetics and Micro biome (joint ESC) w. Networking required) Party expense - ticket at the 0ksenhallen (at own Cannes C16 Intellectual Disability W15 Mulit-gene hereditary panels: cancer balancing clinical utility & research interest S11 Immu - Cancer nogenetics SATELLITES - - Poster viewing / Lunch break / Exhibition break viewing / Lunch Poster Copenhagen W14 Number Copy Inter Variant and pretation Classification C15 Reproductive Genetics nary genetics S10 Population and evolutio - - AWARDS Athens S14 mo Organoid Maxi The dels: Impact of Mini Organs W13 Dysmorpho logy 2 C14 Population Genetics and DNA Ancient S09 Explaining Phenotypic Variability - - - Aarhus S13 - Next genera tion clinical genetics W12 in Big Data Human Gene tics: oppor tunities and challenges C13 Innovative Inter Variant pretation E10 Whole-genome haplotyping methods for human embryo selection - – – – – – – – – – 16.30 16.45 16.45 17.45 17.45 19.15 20.00 08.30 10.00 14.30 15.00 15.00 16.30 13.00 14.30 10.00 10.15 10.15 11.15 11.15 12.45 Monday, May 29, 2017 May Monday, Time INFORMATION

12 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG GENERAL PROGRAMME AT A GLANCE-TUESDAY GENERAL SATURDAY Amsterdam Corporate Satellite Corporate C23 2 Neurogenetics SUNDAY Educational Session Educational Alicante C22 Genetics Systems MONDAY Workshop Cannes TUESDAY Coffe Break (Centerhall) Break Coffe Lunch break (Centerhall) break Lunch C21 disorders Cardiovascular Concurrent Session Concurrent SATELLITES Copenhagen C20 Molecular syndromology Symposium AWARDS Aarhus INFORMATION PL3 Brigdes Debate: ESHG-ASHG-Building Discussions - Past, and Legal Ethical and Future Present C19 and interpretation variant Diagnostic quality control PL4 Mendel Lecture PL5 Lecture ESHG Award PL6 Session Award Award - ESHG Education - EJHG-NPG Awards Awards Investigator Young - Awards - Poster - Closing Plenary Session – – – – – – – 09.00 10.30 10.30 11.00 11.00 12.30 12.30 13.30 13.30 14.15 14.15 15.00 15:00 15.45 Time Tuesday, May 30, 2017 May Tuesday, Session Types: Session : NOTICE IMPORTANT by the session from excluded Persons who will not observerule this be or a mobile phone). if done with a camera taking (no matter that forbidden picturesPlease note or filming during the sessions is the chairpersons.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 13 PROGRAMME POSTER TOPICS-TECHNICAL INFORMATION Poster Topics P01 Reproductive Genetics/Prenatal Genetics...... P01.001 - P01.117 P02 Sensory Disorders (Eye, Ear, Pain)...... P02.01 - P02.54 GENERAL P03 Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal)...... P03.01 - P03.38 P04 Skeletal, Connective Tissue, Ectodermal and Skin Disorders...... P04.01 - P04.89 P05 Cardiovascular Disorders...... P05.01 - P05.60 P06 Metabolic and Mitochondrial Disorders...... P06.01 - P06.54 P07 Immunology and Hematopoetic System...... P07.01 - P07.24 P08 Intellectual Disability...... P08.01 - P08.68 P09 Neurogenetic and Psychiatric Disorders...... P09.001 - P09.126 P10 Neuromuscular Disorders...... P10.01 - P10.60 P11 Multiple Malformation/Anomalies Syndromes...... P11.001 - P11.132 SATURDAY P12 Cancer Genetics...... P12.001 - P12.201 P13 Basic Mechanisms in Molecular and Cytogenetics...... P13.01 - P13.39 P14 New Diagnostic Approaches, Technical Aspects & Quality Control...... P14.001 - P14.105 P15 Personalized/Predictive Medicine and Pharmacogenomics...... P15.01 - P15.36 P16 Omics/Bioinformatics...... P16.01 - P16.71 P17 Epigenetics and Gene Regulation...... P17.01 - P17.61 P18 Genetic Epidemiology/Population Genetics/Statistical Methodology and Evolutionary Genetics...... P18.62 - P18.62 P19 Genetic Counselling/Education/Public Services...... P19.01 - P19.50

SUNDAY P20 Psychological/Ethical/Legal Issues...... P20.01 - P20.24

IMPORTANT: Note that the presentation at the meeting will be the condition for publication of the abstract in the electronic supplement of the European Journal of Human Genetics.

Technical Information for Presenters of Posters Posters will be on display from: Saturday, May 27, (09.30 hrs) to Monday, May 29 (17.45 hrs) Poster mounting will be possible on: Saturday, May 27, from 09.30 hrs onwards

MONDAY Removal will be mandatory on: Groups A-C: Monday, May 29, 2017 from 16.45 hrs Group D: Monday, May 29, 2017: 17.45 - 18.00 hrs

You can find your poster board number in the author index of the Poster Listing available at the “Poster Help Desk” located at the entrance to the Exhibition Hall or at the two information points located in the poster area. Access after Monday, 18.00 hrs is not possible! Safety regulations in place for the exhibition break-down do not allow participants in the hall after this time. Please note that posters not removed until this time will be taken down by the staff of the conference centre. They will be available for (unsupervised) pickup until Tuesday, 16.00 hrs, but will not be stored afterwards or sent to the authors after the meeting.

TUESDAY Presence at Posters In order to enable discussion and interaction with other participants, it is mandatory for you or one of your group to be at your poster board between: Poster Group A: 10.15-11.15 hrs on Sunday, May 28 for posters with board numbers ending with “A” (e.g. P01.01A) Poster Group B: 16.45-17.45 hrs on Sunday, May 28 for posters with board numbers ending with “B” (e.g. P01.01B) Poster Group C: 10.15-11.15 hrs on Monday, May 29 for posters with board numbers ending with “C” (e.g. P01.01C) Poster Group D: 16.45-17.45 hrs on Monday, May 29 for posters with board numbers ending with “D” (e.g. P01.01D)

If it is not possible for you or one of your group to be present during the above stated times, please leave a note on your poster board

SATELLITES detailing the times when you will be present at the board.

Technical Information for Presenters of E-Posters Schedule for display and upload Electronic Posters will be on display from Saturday, May 27 (09:30 hrs) to Monday, May 29 (17:45 hrs). The upload of the poster file will be possible in the Preview Centre from Friday, May 26 from 14:00 hrs onwards (during conference times).

AWARDS Technical Information for Presenters of Talks • All rooms will be equipped with data projection. • It is essential that you load and view your presentation in the Preview centre not later than 2 hours in advance (30 minutes for the first morning talks). • The lecture rooms are exclusively equipped with Windows-PCs (no MACs). In case you absolutely need to use your own laptop or notebook, please contact the Speakers’ Preview well in advance of your talk to check compatibility. • Please bring a USB-key or CD-ROM all formatted for Windows® (PC). You may want to carry a second key/CD as a back-up in case there is any insoluble technical problem. • File Format: Microsoft® Power Point 2007™ presentation formatted for Windows® (PC) only. • Preferred Resolution: XGA (1024 x 768 pixel) INFORMATION • Screen format: 4:3

14 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG SCIENTIFIC

SCIENTIFIC PROGRAMME Saturday, May 27, 2017

PROGRAMME ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 15 PROGRAMME SATURDAY, MAY 27

Time Aarhus Copenhagen Cannes Alicante Amsterdam Cologne Cambridge Ancona 08.15 Sponsored - Educational GENERAL 10.15 Session E01 (See page 44 for details)

10.30 E02 W01 E03 E04 E05 W02 W03 W04 - CRISPR/Cas9 NGS in the 50 Shades Channelopa- Imprinting- A case that Rareconnect: UCSC Genome 12.00 genome editing Clinic of Cancer thies related changed my life Connecting Browser to model Organisers: Genetics Chair: disorders as a geneticist rare disease Organiser: disease Gijs Santen Chair: Enza Maria Valente Chair: Organisers: patient Robert M. Kuhn Chair: Vincenzo Nigro Conxi Lazaro Gunnar Houge Karin Writzl organisations Malte Spielmann Milan Macek Jr Organiser: SATURDAY Denis Costello

10.30 E02.1 This year the E03.1 E04.1 E05.1 We invited profes- "Innovations in the The UCSC Genome Functionally ‘NGS in the clinic’ Genetic suscepti- Brain channelo- Overview on sionals in medical use of the Human Browser is a widely assaying thou- workshop will bility to common pathies imprinting genetics to tell us Phenotype Onto- used platform for focus on what we about an event logy for patients access to genomic sands of BRCA1 cancers: what Renzo Guerrini; related disease consider to be the have we learned or moment when and research in data provided Florence, Italy Deborah J.G. variants with bottleneck of NGS: from large cancer genetics made a the field of rare by laboratories Mackay; saturation ge- how to get from a genetic consortia difference and had diseases." around the world Southampton, nome editing candidate list to an Antonis C. Anto- a profound impact and for display of United Kingdom Greg Findlay; accurate high-qua- niou; on how they see Integrating the user data alongsi- SUNDAY Seattle, United lity clinical report. Cambridge, United the field of Medical Human Pheno- de it. States We will be focusing Kingdom Genetics. type Ontology on the work flow into an online New tools are con- between laborato- Introductory talk patient commu- stantly being deve- ry specialists and Heather Skirton, nity. Looking loped by our team, clinical specialists, Plymouth, UK towards patient and this workshop a factor of critical self-phenotyping will demonstrate 11.15 E02.2 importance which E03.2 E04.2 E05.2 The Insulin Pro- on RareConnect the latest offerings The CRISPR is often over- Two decades Muscle channe- Clinical and ducing Bacterial in combination (Data Integrator, looked. Cell with PhenoTips display mode revolution: after BRCA: set- lopathies molecular Emre Akbas, Orion Buske tailored to whole- engineering ting paradigms Henry Houlden; overview of MONDAY This workshop uses Kadikoy/Istanbul, Sick Children's exome sequencing structural va- the voting system in personalized London, United Beckwith- Turkey Hospital, Toronto and RNA-seq, riants to study in the ESHG con- cancer care and Kingdom Wiedemann Genome Browser- disease ference app. Go to prevention and Silver- My future job The Orphanet in-a-Box). Darío G. Lupiáñez; "Interactive" -> "All Ken Offit; Russel Atieh Abedin experience of Berlin, Germany Sessions" ->W01... New York, United syndromes Tehran, Iran integrating the Previous familiarity Human Pheno- with the Genome States Frédéric Brioude, If you did not yet Genetics is part of type Ontology Browser is recom- E. Giabicani, W. Abi download the app, my DNA into its database mended, but not Habib, I. Netchine; go to https:2017. Chantel van Wyk, Annie Olry required. Laptops Paris, France eshg.org/index. Bloemfontein, Orphanet strongly encou- php/voting to vote South Africa raged. TUESDAY via your mobile An update on pro- browser. Genetics Legal gress and recent and Ethical Limi- developments tations from the Match- Iulia-Teodora maker Exchange Perva, Timisoara, initiative Romania Kym Boycott University of Ot- Multidisciplinary tawa approach in trea- ting patients Anastasia Vasina, SATELLITES Saint-Petersburg, Russia

The secreet of success: exome sequencing over candidate gene approach Yeserin Yildirim, Istanbul, Turkey AWARDS 12.15 B-Halls - 13.45 Lunch break / Posters / Exhibition Corporate Satellites (see page 46 for details) INFORMATION

16 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME SATURDAY, MAY 27 GENERAL

Time Aarhus 14.00 Opening & Welcoming Addresses - Chair: Olaf Riess, Joris Veltman 14.30 Welcoming Addresses by Olaf Riess President of the ESHG SATURDAY Elsebet 0stergaard President of the Danish Society of Human Genetics

14.30 PL1 50 Years of ESHG - Chair: Olaf Riess, Joris Veltman 16.00 14.30 PL1.1 A brief history of how we got here Andrew Read; Manchester, United Kingdom SUNDAY 15.00 PL1.2 How will the present time in genetics be remembered? Han Brunner; Nijmegen, Netherlands 15.30 PL1.3 The Future: Solved Problems and Persisting Challenges Axel Visel; Berkeley, United States 16.00 - Fruit break / Posters / Exhibition MONDAY 16.30 Aarhus 16.30 Plenary Session PL2. Highlights - What’s new? - Chair: Olaf Riess, Joris Veltman 18.00 16.30 PL2.1 Enhancer composition and dosage control developmental gene expression Anja J. Will*, G. Cova, M. Osterwalder, W. Chan, N. Brieske, A. Visel, E. Klopocki, D.G. Lupiáñez, S. Mundlos; Berlin, Germany TUESDAY

16.45 PL2.2 Quantifying the impact of rare coding variation across the phenotypic spectrum Andrea Ganna*, F.K. Satterstrom, S. Zekavat, I. Das, J. Alfoldi, M.I. Kurki, W.K. Thompson, A. Byrnes, K.J. Karczewski, M.A. Rivas, C. Churchhouse, J. Flannick, D. MacArthur, M.J. Daly, P.F. Sullivan, J.C. Florez, A. Palotie, A.E. Locke, A. Børglum, S. Kathiresan, B.M. Neale; Cambridge, United States 17.00 PL2.3 De novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome Chris T. Gordon, S. Xue, G. Yigit, H. Filali, K. Chen, N. Rosin, K. Yoshiura, M. Oufadem, T. Beck, C. Dion, A. Sefiani, H. Kayserili, J. Murphy, C. Chatdokmaiprai, A. Hillmer, D.

Wattanasirichaigoon, S. Lyonnet, F. Magdinier, A. Javed, M. Blewitt, J. Amiel, B. Wollnik, B. Reversade; SATELLITES Paris, France 17.15 PL2.4 Genetic variation in the Estonian population: a pharmacogenomic study of adverse drug reactions using electronic health records Kristi Krebs*, T. Tasa, M. Kals, R. Mägi, T. Esko, A. Metspalu, J. Vilo, L. Milani; Tartu, Estonia

17.30 PL2.5 From pathogenic mechanism to a therapeutic approach in Spinocerebellar Ataxia 38 (SCA38) Eleonora Di Gregorio, M. Ferrero, M. Manes, E. Hoxha, L. Boccone, L. Orsi, N. Mitro, D. Caruso, A. Alberici, A. Padovani, S. Cavalieri, E. Giorgio, C. Mancini, E. Pozzi, E. Riberi, R. Gabriele, I. Balbo, L. Masante, V. Zambelli, M. Maldini, M. Sallese, F. Tempia, B. Borroni, A. Brusco; Torino, Italy AWARDS 17.45 PL2.6 Analysis of de novo mutation clustering identifies candidate disease genes in neurodevelopmental disorders due to likely gain-of- function and dominant-negative mechanisms Stefan H. Lelieveld*, L. Wiel, H. Venselaar, R. Pfundt, G. Vriend, J.A. Veltman, H.G. Brunner, L.E.L.M. Vissers, C. Gilissen; Nijmegen, Netherlands 18.00 - Coffee break / Poster / Exhibition

18.30 INFORMATION

Presentations highlighted by an asterisk (*) and a grey background are from Young Investigator Award finalists. City and country refer to the affilitation of the presenting author.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 17 PROGRAMME SATURDAY, MAY 27

Time Aarhus Copenhagen Cannes Alicante Amsterdam Cologne 18.30 C01 C02 C03 C04 C05 C06 - Personalized Neurogenetics 1 Best Posters Session Epigenetics and Skin and Bones ELSI genomics GENERAL 20.00 Medicine and Chair: Chair: Gene Regulation Chair: Chair: Pharmacogenomics Maria Nicla Loviglio Gunnar Houge Chair: Yasemin Alanay Pascal Borry Chair: Angus J. Clarke Joris Veltman Isabella Ceccherini Cecilie F. Rustad Helena Kääriäinen Milan Macek Jr. Robert Lyle Cecilia Gunnarsson 18.30 C01.1 C02.1 C04.1 C05.1 C06.1 The role of Next- Allele-specific silencing The 19 Best Posters Polymer physics Mutations in three ge- Uncertainty about generation sequen- as therapeutic strat- were selected for a predicts the effects nes encoding proteins carrier results from cing in tumours in egy for disorders due short presentation (2 of structural variants involved in hair shaft exome sequencing: Adolescents and to gene duplication: minutes) in the lecture on chromatin archi- formation cause uncom- A randomized con- young adults (AYA) a proof-of-principle hall. tecture bable hair syndrome trolled trial of dis- SATURDAY with advanced solid in Autosomal Domi- Darío G. Lupiáñez, S. F. Ü. Basmanav, L. Cau, A. closure tumors participa- nant LeukoDystrophy After the presentation Bianco, A.M. Chiariello, C. Tafazzoli, M. Méchin, S. Wolf, M. Barbara B. Biesecker, ting in phase I trials (ADLD). of all posters (approx- Annunziatella, K. Kraft, Romano, F. Valentin, H. Wieg- K. Lewis, K.L. Umstead, J. R. Schöpflin, L. Wittler, mann, A. Huchenq, N. Garcia Terri P. McVeigh*, R. Elisa Giorgio*, A. Bartoletti- Johnston, L.G. Biesecker; imtely at 19.10 hrs), the G. Andrey, M. Vingron, A. Bartels, A. Kilic, S. George, D.J. Sundar, N. Diamantis, S. Stella, A. Brussino, C. Mancini, Bethesda, United States authors and the audi- Pombo, S. Mundlos, M. Ralser, D.J. Ferguson, H. Thiele, Kaye, U. Banerji, J. Lopez, S. Cavalieri, M. Ferrero, E. Di ence will proceed to the Nicodemi; J. Altmüller, P. Nürnberg, A. J. de Bono, W. van der Gregorio, E. Pozzi, E. Riberi, L. Berlin, Germany Büchner, L. Weibel, N. Wagner, Graaf, A.J. George; Gasparini, P. Cortelli, S. Capel- electronic posters in R. Grimalt, A. Bygum, G. Serre, Sutton, United Kingdom lari, A. Brusco; front of the lecture hall U. Blume-Peytavi, E. Sprecher, Torino, Italy for discussion with the

SUNDAY authors for the remain- V. Oji, H. Hamm, P. Farrant, M. Simon, Regina C. Betz; der of the session. Bonn, Germany 18.45 C01.2 C02.2 C04.2 C05.2 C06.2 Less is More: CHRNA7 CNVs: shared Please find the list of Changes in chro- Genotype-phenotype Recommendations knockdown of the clinical phenotypes presentations on page matin interaction correlation in Jeune for the reporting of aberrant HBB IVSI-110- mediated by differing 20. dynamics at the thoracic dysplasia/short results from diagno- (G>A) mRNA restores molecular mechanisms PITX1 locus cause rib-polydactyly type III: stic next generation HBB expression Madelyn A. Gillentine*, J. congenital limb review of 130 cases sequencing and enhances gene Yin, S. Cummock, J.J. Kim, A. malformations Caroline Michot, C. Huber, Danya F. Vears*, K. Sénécal, therapy by gene Bajic, C.P. Schaaf; Malte Spielmann, B. K. Le Quan Sang, C. Bole, P. A.J. Clarke, H.G. Yntema, Houston, United States MONDAY addition in primary Kragesteen, C. Paliou, R. Nitschke, E. Abdalla, J. Alessan- L. Jackson, L. Lovrecic, A. dri, C. Baumann, M. Bedeschi, Piton, K.L.I. Van Gassen, B.M. erythroid cells Schoepflin, V. Heinrich, I. Harabula, D. Lupianez, M. E. Bieth, F. Brancati, K. Chand- Knoppers, P. Borry; Petros Patsali*, P. Franke, M. Hochradel, K. ler, M. Cordier, K. Devriendt, Leuven, Belgium Papasavva, C. Stephanou, Kraft, I. Jerkovic, L. Wittler, A. Dieux, C. Do Ngoc Thanh, S. Christou, M. Sitarou, M. S. Mundlos, G. Andrey; S. El Chehadeh, L. Faivre, Antoniou, C.W. Lederer, M. Berlin, Germany C. Francannet, D. Gaillard, Kleanthous; D. Geneviève, M. Gérard, B. Nicosia, Cyprus Gilbert, F. Giuliano, A. Gol- denberg, B. Isidor, M. Irving, P. Jouk, J. Martinovic, M. Mathieu, A. Mégarbané, G. Mortier, S. TUESDAY Odent, J. Piard, M. Port-Lis, M. Rossi, S. Sigaudy, M. Simon, P. Simsek-Kiper, Y. Sznajer, S. Tomkins, V. Tasic, A. Toutain, P. Turnpenny, I. Vogel, S. Whalen, M. Wright, A. Yeung, G. Baujat, V. Cormier-Daire; Paris, France 19.00 C01.3 C02.3 C04.3 C05.3 C06.3 A first genome-wide 17q21.31 duplication Generating large- Phenomics analysis of Legal framework for systems genetics causes prominent Tau- scale datasets of zebrafish type I colla- genomic data sharing approach identi- related Dementia with mutational effects gen mutants reveals a in view of the new EU SATELLITES fies risk loci and Increased MAPT expres- for interpreting spectrum of skeletal General Data Protec- pathways for can- sion regulatory variants phenotypes mimicking tion Regulation didaemia suscepti- Kilan Le Guennec*, O. Martin Kircher, F. Inoue, the clinical variability in Mahsa Shabani*, P. Borry; bility Quenez, G. Nicolas, D. Wallon, C. Xiong, B. Martin, N. human brittle bone Leuven, Belgium Vasiliki Matzaraki*, M. S. Rousseau, A. Richard, J. Alex- Ahituv, J. Shendure; C. Gistelinck, R.Y. Kwon, F. Jaeger, R.A. Gamboa, S. ander, P. Paschou, C. Charbon- Berlin, Germany Malfait, P. Vermassen, H. De Smeekens, M. Oosting, F. nier, C. Bellenguez, B. Grenier- Saffel, K. Henke, M.P. Harris, A. van de Veerdonk, L.A.B. Boley, D. Lechner, M. Bihoreau, De Paepe, M. Weis, D.R. Eyre, A. Joosten, Y. Li, M.G. Netea, R. Olaso, A. Boland, V. Meyer, Willaert, Paul J. Coucke; C. Wijmenga, V. Kumar; J. Deleuze, P. Amouyel, H. Gent, Belgium AWARDS Groningen, Netherlands Munter, G. Bourque, M. La- throp, T. Frébourg, R. Redon, L. Letenneur, J. Dartigues, O. Martinaud, O. Kalev, S. Mehra- bian, L. Traykov, T. Ströbel, I. Le Ber, P. Caroppo, S. Epelbaum, T. Jonveaux, F. Pasquier, A. Rollin-Sillaire, E. Génin, L. Guyant-Maréchal, G. Kovacs, J. Lambert, D. Hannequin, D. Campion, A. Rovelet-Lecrux, CNR-MAJ collaborators; Rouen, France INFORMATION

18 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME SATURDAY, MAY 27 GENERAL

Time Aarhus Copenhagen Cannes Alicante Amsterdam Cologne cont. C01 C02 C03 C04 C05 C06 Personalized Neurogenetics 1 Best Posters Session Epigenetics and Gene Skin and Bones ELSI genomics Medicine and Regulation Pharmacogenomics 19.15 C01.4 C02.4 C04.4 C05.4 C06.4 Whole genome MCM3AP in recessive The 19 Best Posters Local regulatory A 10q24.32 duplica- Recontact about sequencing yields axonal neuropathy were selected for a networks across two tion causes bilateral clinically significant SATURDAY medically significant and mild intellectual short presentation (2 tissues and applica- femoral hypoplasia variant reclassificati- secondary variants in disability minutes) in the lecture tions to analyze rare through formation of ons in cardiogenetics; ~25% of a paediatric E. Ylikallio, R. Woldegebriel, hall. non-coding variants a novel sub-TAD patient experiences cohort M. Tumiati, P. Isohanni, M.M. Alexandre Reymond, O. Magdalena Socha*, Tanya F. Halbersma- M Stephen Meyn, S.C. Ryan, Z. Stark, W. Maie, S.L. After the presentation Delaneau, M. Zazhytska, A. Sowińska-Seidler, S. Konings*, J. el Mecky, A.V. Sawyer, K.M. Bell, A. Oshlack, Bowdin, C. Marshall, D.J. of all posters (approx- K. Popadin, S. Kumar, G. Mundlos, M. Spielmann, A. Ranchor, M. Plantinga, E. P.L. Lockhart, M. Shcherbii, A. Ambrosini, A. Gschwind, Jamsheer; Birnie, I.M. van Langen; Stavropoulos, R. Basran, imtely at 19.10 hrs), the M. Reuter, D. Merico, R.Z. Estrada-Cuzcano, D. Atkin- C. Borel, D. Marbach, D. Poznań, Poland Groningen, Netherlands Hayeems, M. Szego, R. son, T. Hartley, M. Tetreault, authors and the audi- Lamparter, M. Wiederkehr, Zlotnik Shaul, C. Shuman, T. I. Cuppen, W.L. van der Pol, ence will proceed to the S. Bergmann, P. Bucher, Nalpathamkalam, G. Pellec- A. Candayan, E. Battaloglu, electronic posters in S.E. Antonarakis, E.T. Der- Y. Parman, K.L.I. van Gassen, chia, B. Thiruvahindrapu- front of the lecture hall mitzakis; SUNDAY ram, M. Girdea, M. Brudno, M.H. van den Boogaard, for discussion with the Lausanne, Switzerland R.D. Cohn, S.W. Scherer, P.N. K.M. Boycott, L. Kauppi, A. Jordanova, T. Lönnqvist, authors for the remain- Ray, N. Monfared; der of the session. Toronto, Canada Henna Tyynismaa; Helsinki, Finland 19.30 C01.5 C02.5 Please find the list of C04.5 C05.5 C06.5 Secondary actionable BZRAP1 (RIM-BP1) presentations on page Cis-Regulatory Non- Cross-mapping ana- Evaluation of the findings identified by mutations cause a 20. coding Elements, the lysis identifies 9 mo- 100,000 Genomes whole-exome sequen- novel autosomal hidden master wea- difier loci in Marfan Project Consent Pro- cing from 693 conse- recessive dystonia vers of CDH1 expres- syndrome cess and Participant cutive tests: implica- syndrome sion: lessons from M. Aubart, Louise Benar- Materials MONDAY tions for organization Sander Pajusalu*, N.E. HDGC patients roch*, P. Arnaud, S. Gazal, Caroline M. Benjamin, of care and patients? Mencacci, B. Atasu, R. Rein, Ana S. Valente*, H. Pinhei- M. Gross, J. Burrati, A. M. Boudioni, H. Ward, E. Boland, V. Meyer, N. Hanna, Christel Thauvin-Robinet, S. Puusepp, K. Reinson, T. ro, P. Oliveira, J. Carvalho, R. Marston, A. Lindenmeyer, O. Milleron, C. Stheneur, T. J. Thévenon, S. Nambot, P. Tomberg, S. Wiethoff, A. Bordeira-Cariço, S. Sousa, G. M. Bangee, J. Cook Lucas, Bourgeron, I. Desguerre, M. Kuentz, A. Bruel, A. Chassa- Papandreou, T.T. Warner, B. Almeida, J. Bessa, D. Hunts- R. Leavey, M. Caulfield, Jacob, L. Gouya, E. Génin, gne, E. Cretin, O. Putois, A. Balint, K.P. Bhatia, T. Gasser, man, C. Oliveira; T. Fowler, A. Lucassen, F. J. Deleuze, G. Jondeau, C. Pélissier, C. Peyron, E. Gau- J. Simon-Sanchez, M.A. Porto, Portugal Rennie, L. Riley, M. Parker, V. Boileau; tier, J. Skrzypski, D. Lehalle, Kurian, C. Acuna, M. Pak, Parry, E. Thomas, C. Patch, A. Paris, France N. Jean-Marçais, P. Callier, E. Lohmann, N. Wood, K. Cranage, L. Dinh; A. Mosca-Boidron, C. Poe, Õunap; Preston, United Kingdom T. Jouan, M. Chevarin, M. Tartu, Estonia TUESDAY Lefebvre, E. Tisserant, C. Bin- quet, J. Deleuze, Y. Duffourd, L. Faivre; Dijon, France 19.45 C01.6 C02.6 C04.6 C05.6 C06.6 Genetics-first analysis De novo mutations in Single Cell Methyl-Seq Post-zygotic muta- Recontacting in clini- of high-risk variants regulatory elements for Analysis of Epi- tions in RAS genes cal practice: results for breast, ovarian cause neurodevelop- genomic Diversity in cause vascular mal- from an investigation and prostate cancer in mental disorders Mammalian Brain formations with over- of the perspectives of participants of Estoni- Patrick Short*, J. McRae, G. Laurie Kurihara, C. Luo, E. growth patients and healthca- SATELLITES an Genome Center Gallone, S. Gerety, C. Wright, Mukamel, R. Castanon, J. K. Andrews, S. Polubothu, re professionals in the M. Palover, L. Leitsalu, A. H. Firth, D. FitzPatrick, J. Lucero, J. Nery, C. Keown, T. R. Knox, L. Al-Olabi, A. United Kingdom Barrett, M. Hurles, on behalf Harkins, M. Behrens, J. Ecker; Reigo, T. Nikopensius, K. Barnacle, G. Clark, M. Daniele Carrieri, S. Dheen- of the DDD study; Ann Arbor, United States Vaiküll, M. Kals, P. Padrik, T. Glover, S. Huson, C. Mahon, sa, S. Doheny, P.D. Turnpen- Hinxton, United Kingdom Esko, A. Metspalu, Neeme A. Murthy, R. Waelchli, V. ny, A.J. Clarke, A.M. Lucas- Tonisson; Parker, R. Semple, Veronica sen, N. Hawkins, S.E. Kelly; Tartu, Estonia A. Kinsler; Exeter, United Kingdom London, United Kingdom 20.00 - Networking Mixer in the Bella Center (Centerhall, ground floor) 21.30 AWARDS

Presentations highlighted by an asterisk (*) and a grey background are from Young Investigator Award finalists. INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 19 PROGRAMME SATURDAY, MAY 27

Cannes 18.30 C03 - Best Posters Session GENERAL 19.10 Chair: Gunnar Houge, Joris Veltman

P09.005A snRNU12 mutation presents a new genetic cause of congenital AR-cerebellar ataxia. Minor spliceosome machinery associated inherited genetic diseases M. Elsaid, N. Chalhoub, T. Ben Omran, H. Kamel, K. Ibrahim, J. Malek, K. Suhre, M. Ross, Alice K. Abdel Aleem; Doha, Qatar

P11.002B Biallelic mutations in TBCD, encoding the tubulin folding cofactor D, perturb microtubule dynamics and cause early-onset neurodegenerative encephalopathy. Marcello Niceta, E. Flex, S. Cecchetti, I. Thiffault, M.G. Au, A. Capuano, E. Piermarini, A.A. Ivanova, J.W. Francis, G. Chillemi, B. Chandramouli, G. Carpentieri, C.A. Haaxma, A. Ciolfi, S. Pizzi, D. Ganka, K. Levine, A. Sferra, M.L. Dentici, R.R. Pfundt, J. Lepichon, E. Farrow, F. Baas, F. Piemonte, B. Dallapiccola, J.M. Graham Jr, C.J. Saunders, E. Bertini, R.A. Kahn, D.A. Koolen, M. Tartaglia; Roma, Italy SATURDAY P14.002B Tracing the dark matter: investigating the prevalence of exonic copy number and structural variants in Mendelian disorders Swaroop Aradhya, R. Truty, J. Paul, M. Kennemer, E. Gafni, S. Fay, S. Lincoln, R. Nussbaum; San Francisco, United States P04.01A Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome P. Vabres, Arthur Sorlin*, S.S. Kholmanskikh, B. Demeer, J. St-Onge, Y. Duffourd, P. Kuentz, J. Courcet, V. Carmignac, D. Bessis, O. Boute, A. Bron, G. Captier, E. Carmi, S. Dalac, B. Devauchelle, D. Geneviève, C. Gondry, L. Guibaud, A. Lafon, J. Thenevon, G. Bernard, W.B. Dobyns, L. Faivre, M.E. Ross, J. Rivière; Dijon, France P14.003C Next generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos Thomas Liehr, N. Acquarola, K. Pyle, S. St-Pierre, M. Rinholm, I. Schreyer; Jena, Germany

SUNDAY P20.03C Which policies work?: Comparative approaches to regulating life insurer use of genetic information from the UK, Canada, and Australia Anya Prince; Chapel Hill, United States P04.03C Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency Antonino Montalbano*, L. Juergensen, R. Roeth, B. Weiss, M. Fukami, S. Fricke-Otto, G. Binder, T. Ogata, E. Decker, G. Nuernberg, D. Hassel, G. Rappold; Heidelberg, Germany P04.02B Plastin 3 regulates bone development and maintenance through the NFκB pathway in osteoclasts Janine Milbradt*, S.M. Hosseinibarkooie, M. Peters, K. Hupperich, V. Grysko, J. Heilig, F. Zaucke, A. Niehoff, B. Wirth; Cologne, Germany P17.01A Characterization of the expression of the imprinted Kcnk9-gene in specific brain regions and the phenotypic analysis of Kcnk9-knockout mice

MONDAY Alexis Cooper*, M. Linke, F. Lesage, S. Schweiger, U. Zechner; Mainz, Germany

P20.04D Adolescent attitudes towards genetic testing for adult-onset conditions A.K. Rahm, L. Bailey, O. D‘Accordo, Y. Munishor, C. Miller, E. Davidson, K. Pulliam, H. Zhang, L. Hercher, M. Williams, Michael J. Dougherty; Bethesda, United States P12.003C Landscape of pathogenic variations in a panel of 34 genes in 5131 HBOC families and cancer risk estimation Laurent Castéra, V. Harter, S. Krieger, N. Goardon, A. Ricou, A. Rousselin, G. Paimparay, A. Legros, O. Bruet, C. Quesnelle, F. Domin, C. San, B. Brault, R. Fouillet, C. Abadie, O. Béra, P. Berthet, French Exome Project consortium, T. Frebourg, D. Vaur; Caen, France P09.001A Mutations in CoA Synthase cause pontocerebellar hypoplasia Tessa van Dijk*, S. Ferdinandusse, J.P.N. Ruiter, R.J.A. Wanders, I.B. Mathijssen, J.S. Parboosingh, M. Alders, A.M. Innes, E.J. Meijers-Heijboer, F. Bernier, R. Larmont, F. Baas; Amsterdam, Netherlands TUESDAY P19.01A Reconciling non-directivity and the counselors‘ preference in prenatal counseling Sanne L. van der Steen*, I.M. Bakkeren, R.J.H. Galjaard, M.G. Polak, J.J. Busschbach, S.R. Riedijk, A. Tibben; Rotterdam, Netherlands P01.004D Detection of de novo structural chromosomal rearrangements with nucleotide level resolution for assessment of their clinical outcome in prenatal diagnosis Inês Carvalho, J. Freixo, M. Marques, M. Cardoso, J. Fino, C. Alves, B. Marques, M. Talkowski, H. Correia, C. Morton, D. David; Lisbon, Portugal

P13.02B Cryptic complexity and disease candidate genes identified in de novo apparently balanced translocations using whole-genome mate- pair sequencing Constantia Aristidou, M.M. Mehrjouy, M. Bak, A. Theodosiou, V. Christophidou-Anastasiadou, N. Skordis, N. Tommerup, C. Sismani; Nicosia, Cyprus

P01.001A Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families SATELLITES Laura Kasak*, K. Rull, S. Sõber, M. Laan; Tartu, Estonia P16.04D High-throughput clonal analysis of tumors with droplet microfluidics Dennis Eastburn, M. Pellegrino, S. Treusch, A. Sciambi; South San Francisco, United States P12.004D Impact Of Genome Variation On Functional CRISPR Screens And Mapping Variant Data To Disease Biology A. Ajetunmobi, Leigh Brody, N. Humphryes-Kirilov; London, United Kingdom P09.006B TBCD mutations cause autosomal recessive early childhood-onset neurodegenerative encephalopathy Noriko Miyake, T. Chihara, M. Miura, H. Shimizu, A. Kakita, N. Matsumoto; Yokohama, Japan

AWARDS The 19 Best Posters were selected for a short presentation (2 minutes) in the lecture hall.

After the presentation of all posters (approximtely at 19.10 hrs), the authors and the audience will proceed to the electronic posters in front of the lecture hall for discussion with the authors for the remainder of the session (until 20.00 hrs). INFORMATION

20 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG SCIENTIFIC

SCIENTIFIC PROGRAMME Sunday, May 28, 2017

PROGRAMME ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 21 Join ESHG today! Become an ESHG Member

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Visit the ESHG booth #238 today and enrol as a member GreatVectors.com or join online at www.eshg.org PROGRAMME SUNDAY, MAY 28 GENERAL

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam 08.30 S01 S02 S03 S04 E06 E507 - Single cell studies: One gene, many Novel Treatment From Association to Bioethics for Pharmacogenomics 10.00 From technology to phenotypes Options Causality in complex ‚dummies‘ in the clinic biology Chair: Chair: diseases Chair: Chair: Chair: Enza Maria Valente Yanick J. Crow Chair: Francesca Forzano William G. Newman Thierry Voet Elsebet Ostergaard Asbjorg Stray-Pedersen Samuli Ripatti Henna Tyynismaa Anders Børglum SATURDAY 08.30 S01.1 S02.1 S03.1 S04.1 E06.1 E07.1 Single cell Filaminopathies Emerging targeted Genetic architecture Gene editing, NIPT Pharmacogenomics RNAseq-based Stephen P. Robertson; drug therapies in of coronary artery Martina C. Cornel; Knowledge for characterisation of Dunedin, New Zealand skeletal dysplasias disease, a common Amsterdam, Netherlands Personalized adult stem cells Ravi Savarirayan; and complex Medicine Bart Deplancke; Melbourne, Australia disorder Teri Klein; Lausanne, Switzerland Sekar Kathiresan; Stanford, United States Boston, United States

09.00 S01.2 S02.2 S03.2 S04.2 Towards single- Laminopathies Gene therapy Efficient fine- SUNDAY cell proteomics: Nicolas Levy; of myotubular mapping of genome- Unraveling cell Marseille, France myopathy wide association populations in Anna Buj-Bello; study results 09.15 health and disease Genethon, France Matti Pirinen; E06.2 E07.2 by single-cell mass Helsinki, Finland Balancing public Implementation of cytometry health & biomedical pharmacogenomics Bernd Bodenmiller; ethics: The case of in the clinic Zurich, Switzerland newborn screening Munir Pirmohamed; Yvonne Bombard; Liverpool, United Kingdom 09.30 S01.3 S02.3 S03.3 S04.3 Toronto, Canada Single-cell genomics Disruption of Na+ Pronuclear Integration of eqtl MONDAY Gioele La Manno; binding in alpha-3 transfer to prevent and GWAS to find Stockholm, Sweden Na+,K+-ATPaseby mitochondrial susceptibility genes neurological disease DNA disease (Mito for complex traits mutations and therapy) Bogdan Pasaniuc; rescue by second- Mary Herbert; Los Angeles, United States site mutation Newcastle, United Bente Vilsen, R. Holm, Kingdom C.P. Rønn, M.S. Toustrup- Jensen, A.P. Einholm, V.R.

Schack; TUESDAY Aarhus, Denmark

10.00 - Coffee Break / Poster viewing / Exhibition 10.15 10.15 - Poster viewing with presenters and coffee - GROUP A 11.15 11.15 B-Halls

- SATELLITES 12.45 Lunch break / Posters / Exhibition Corporate Satellites (see page 46-48 for details) AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 23 PROGRAMME SUNDAY, MAY 28

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam 13.00 C07 C08 C09 C10 C11 C12 - Novel genomics Neuromuscular Molecular Mechanisms GWAS: Resolving Sensory disorders Engaging Patients in GENERAL 14.30 technologies Disorders of Disease Missing Causality Chair: Genomics Chair: Chair: Chair: Chair: Trine E. Prescott Chair: Johan den Dunnen Marta Bertoli Olaug Rødningen Philippos C. Patsalis Dragana Vuckovic Helena Kaariainen Michael Parks Sabine Grønborg Niels Tommerup Anne Tybjaerg-Hansen Birgitte R. Diness 13.00 C07.1 C08.1 C09.1 C10.1 C11.1 C12.1 Mosaic mutation Biallelic mutations X chromosome inacti- Systems Genetics FDXR mutations cause SEQUAPRE: Prefe- detection using single in the myopalladin vation in human single and Transcriptome sensorial neuropathi- rences and represen- molecule molecular gene, MYPN are cells analysis on Circulating es, a new mitochondri- tations from patients inversion probes associated with child- Federico A. Santoni, C. Bo- Proteins al Fe-S disease. and parents with (smMIPs) for autoin- hood-onset, slowly rel, M. Garieri, M. Garieri, G. D.V. Zhernakova, U. Vosa, A. Antoine Paul*, A. Drecourt, regard to the use flammatory disorders progressive nemaline Stamoulis, S.E. Antonarakis; Claringbould, M.J. Bonder, D. Dupin Deguine, C. Vasnier, of Next-Generation SATURDAY Geneva, Switzerland E.C. Carbo, M.J. Koudijs, myopathy A. Kurilshikov, S. Sanna, M. Oufadem, F. Petit, C. Sequencing technolo- B. Atanasovska, R.A. Boer, Masson, C. Bonnet, S. Mas- S.M.C. Savelberg, F. Mulder, Naomichi Matsumoto, S. F. Kuipers, L. Franke, C. moudi, I. Mosnier, L. Mahieu, gies in medical gene- J. Frenkel, M.A. Swertz, H. Miyatake; Wijmenga, A. Zhernakova, D. Bouccara, J. Kaplan, tics. The case of deve- PloosvanAmstel, Marielle Yokohama, Japan E. van Gijn; Jingyuan Fu; G. Challe, C. Domange, F. lopment anomalies. Aline Chassagne, A. Pélis- Utrecht, Netherlands Groningen, Netherlands Mochel, O. Sterkers, S. Gerber, P. Nitschke, C. Bole-Feysot, sier, C. Peyron, F. Houdayer, L. Jonard, G. Souad, I. Ben D. Salvi, S. Kidri, A. Charpin, Aissa, S. Lyonnet, A. Rotig, A. A. Godard, O. Putois, C. Delahodde, S. Marlin; Thauvin-Robinet, A. Masurel, Paris, France N. Jean, D. Lehalle, J. The- SUNDAY venon, L. Joly, E. Gautier, P. Ancet, A. Lapointe, P. Morin, P. Edery, M. Rossi, D. Sanla- ville, S. Bejean, E. Cretin, L. Faivre; Besançon, France 13.15 C07.2 C08.2 C09.2 C10.2 C11.2 C12.2 Ultra-sensitive detec- Neurocalcin delta as Morbidity risk of chro- The deCODE replicati- A homozygous variant Children with a rare tion of mosaic muta- a novel protective mosomal breakpoints on server, a resource in mitochondrial RNa- chromosome disorder. tions in blood DNA of modifier for spinal in topological domains for the replication of se P subunit PRORP How have UK families’ healthy individuals muscular atrophy: A enriched in non-exonic published genotype- is associated with experiences of dia-

MONDAY provides new insights full story from gene conserved elements phenotype associa- Perrault Syndrome gnosis and counsel- into age-related clo- identification to Mads Bak, A. Fonseca, M. tions characterised by hea- ling changed over the nal hematopoiesis therapy Mehrjouy, M. Rasmussen, C. Asmundur Oddsson*, P. ring loss and primary ten year period 2003 Rocio Acuna Hidalgo, H. Svenja Schneider*, M. Halgren, I. Bache, P. Kroisel, Sulem, G. Thorisson, S.A. ovarian insufficiency - 2013? S. Midyan, J. Vermeesch, A. Sengül, M. Steehouwer, M. Riessland, A. Kaczmarek, Gudjonsson, S. Benonis- Leigh A.M. Demain*, I. Ala Szczepura, S. Wynn, B. Vienna-Morgante, K. Abe, D. van der Vorst, J.A. Veltman, K.J. Swoboda, H. Loehr, C. dottir, G. Arnadottir, B.O. Hochberg, J.E. Urquhart, Searle, A.J. Khan, T. Palmer, Moretti-Ferreira, L. Angelova, C. Gilissen, A. Hoischen; Bradler, V. Grysko, M. Dimit- Jensson, R.P. Kristjansson, G. A. Amberger, A.J. Deutsch- D. Biggerstaff, J. Elliott, M. E. Rajcan-Separovic, C. Sisma- Nijmegen, Netherlands riadi, S. Hosseinibarkooie, Sulem, U. Thorsteinsdottir, G. mann, K. Thompson, J. Hultén; ni, C. Aristidou, Z. Sedlacek, L. Torres-Benito, M. Peters, Masson, D.F. Gudbjartsson, O’Sullivan, I.A. Belyantseva, Coventry, United Kingdom C. Fagerberg, K. Brøndum- A. Upadhyay, N. Biglari, S. K. Stefansson; M. Barzik, S.G. Williams, S.S. Nielsen, I. Vogel, A. Bojesen, K. Kroeber, I. Hoelker, L. Gar- Reykjavik, Iceland Bhaskar, E.M. Jenkinson, N. Õunap, L. Roht , J. Lespinasse,

TUESDAY bes, C. Gilissen, A. Hoischen, AlSheqaih, Z. Blumenfeld, C. Beneteau, V. Kalscheuer, G. Nuernberg, P. Nuernberg, S. Yalonetsky, S. Oerum, W. N. Ehmke, C. Daumer-Haas, M. Walter, F. Rigo, C.F. Rossmanith, W.W. Yue, J. E. Stefanou, M. Czako, F. Bennett, M.J. Kye, A.C. Hart, Zschocke, R.W. Taylor, T.B. Sheth, C. Bonaglia, A. Novelli, M. Hammerschmidt, P. Friedman, K.J. Munro, R.T. O’ M. Fannemel, J. Engelen, A. Kloppenburg, B. Wirth; Keefe, W.G. Newman; Travessa, N. Kokalj-Vokac, M. Cologne, Germany Manchester, United Kingdom Ramos-Arroyo, L.R. Martínez, M. Guitart, A. Schinzel, F. Silan, C. de Almeida, Y. Akkari, J. Batanian, H. Kim, P. Jacky, N. Tommerup, International Bre- akpoint Mapping Consortium; SATELLITES Copenhagen, Denmark

13.30 C07.3 C08.3 C09.3 C10.3 C11.3 C12.3 Quantifying the role Dissecting the cau- Whole genome cha- Assessing the causal Rare genetic variants BRCA1/BRCA2 popu- of paralogous genes sal mechanism of racterization of array role of body mass in MEPE cause conge- lation screening in in tissue selective X-linked dystonia- defined clustered index on cardiovas- nital facial paresis with Ashkenazi Jews: Long hereditary diseases parkinsonism by CNVs reveals two cular health in young stapes fixation, and term impact. R. Barshir, N. Shemesh, I. integrating genome distinct complex rear- adults: a Mendelian are associated with Sari Lieberman, A. Tomer, Hekselman, O. Basha, M. and transcriptome rangement subclasses randomization and otosclerosis A. Ben Chetrit, O. Olsha, R. AWARDS Sharon, L. Alfandri, L. No- assembly generated through eit- recall-by-genotype Hanne Valgaeren*, I. Beeri, A. Raz, A. Lahad, E. vack, Esti Yeger-Lotem; Levy-Lahad; Tatsiana Aneichyk*, W.T. Schrauwen, L. Tomas-Roca, Beer-Sheva, Israel her non-homologous analysis Jerusalem, Israel Hendricks, R. Yadav, D. repair or template Kaitlin H. Wade*, S.T. U. Altunoglu, M. Wesdorp, M. Sommen, M. Rahmouni, E. Shin, D. Gao, C.A. Vaine, R.L. switching Chiesa, A.D. Hughes, N. Collins, B. Currall, M.E. Dy, J. van Beusekom, M.J. Huentel- Lusine Nazaryan-Peter- Chaturvedi, M. Charakida, Dhakal, N. Ito, N. Sharma, man, E. Offeciers, I. dHooghe, sen*, J. Eisfeldt, J. Lundin, A. Rapala, V. Muthurangu, T. X.O. Breakefield, L.J. Ozelius, R. Vincent, A. Huber, P. Van M. Pettersson, D. Nilsson, J. Khan, A. Fraser, D. Lawlor, G. C.D. Bragg, M. Talkowski; de Heyning, D. Zanetti, E.M.R. Wincent, A. Lieden, F. Vezzi, V. Davey Smith, J.E. Deanfield, Boston, United States De Leenheer, C. Gilissen, C.W. Wirta, M. Käller, T. Duelund, R. N.J. Timpson; Cremers, B. Verbist, A.P.M. de Houssari, L. Pignata, M. Bak, Bristol, United Kingdom Brouwer, G.W. Padberg, H. N. Tommerup, E.S. Lundberg, Kremer, G. Van Camp, H. van Z. Tümer, A. Lindstrand; Bokhoven; Edegem, Belgium Copenhagen, Denmark INFORMATION

24 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME SUNDAY, MAY 28 GENERAL

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam cont. C07 C08 C09 C10 C11 C12 Novel genomics Neuromuscular Molecular GWAS: Resolving Sensory disorders Engaging Patients in technologies Disorders Mechanisms of Missing Causality Genomics Disease 13.45 C07.4 C08.4 C09.4 C10.4 C11.4 C12.4 Mapping and Application of Biallelic mutations Fine-mapping analysis Naturally-occuring The European Gen- phasing of structural exome sequencing of Prune-1 are of 158 breast cancer exon-skipping allows Equip project to SATURDAY variation in technologies to 1,000 causing PEHO-like risk loci from OncoArray bypassing complete create accessible patient genomes patients affected by syndrome with data CEP290 loss-of- resources for using nanopore limb-girdle weakness microcephaly and Laura Fachal*, J. Allen, M. function in individuals genetics education sequencing of unknown origin neurodevelopmental Ghoussaini, J. Beesley, J.S. with unusually mild in primary care: M. Cretu-Stancu, M. van Katherine Johnson*, A. impairment. Carroll, G. Chenevix-Trench, J. retinal disease an account of Simard, P. Kraft, D.F. Easton, A. Roosmalen, I. Renkens, M. Töpf, M. Bertoli, L. Phillips, A. Veronica Ferrucci, V. Iris Barny*, I. Perrault, S. Dunning; the process, the Nieboer, S. Middelkamp, Blain, M. Ensini, M. Lek, L. Xu, Salpietro, F. Asadzadeh, Thomas, T. Attié-Bitach, C. challenges and the J. de Ligt, G. Pregno, D. T. Mullen, E. Valkanas, D.G. Cambridge, United Kingdom F. Pennino, M. Ahmed, I. Hamel, H. Dollfus, J. Kaplan, successes. Giachino, G. Mandrile, MacArthur, V. Straub; Scognamiglio, L. Musella, J. Rozet, X. Gérard; Leigh Jackson*, M. J. Espejo Valle-Inclan, J. Newcastle upon Tyne, United A. Di Somma, F. Cozzolino, Paris, France Cornel, M. Paneque, V. Korzelius, E. de Bruijn, E. Kingdom A. Duilio, P. Pucci, E. Karaca, Stefansdottir, D. Turchetti, Cuppen, M. Talkowski, T. A.H. Crosby, E.L. Baple, H. SUNDAY V. Curtisova, P.W. Lunt, Marschall, J. de Ridder, Houlden, J.R. Lupsky, M. M. Campos, A. Kent, M. Wigard Kloosterman; Zollo; Macek Jnr, E. Houwink, A. Utrecht, Netherlands Milan, Italy O‘Connor, H. Skirton; Exeter, United Kingdom 14.00 C07.5 C08.5 C09.5 C10.5 C11.5 C12.5 Enrichment of Autosomal recessive A human Prospects of fine- Hidden genetic UK investigation unamplified DNA myopathy associated developmental mapping causal genetic variation in Stargardt of the experiences and long-read with cataracts caused syndrome caused by variants using summary disease: novel copy and information SMRT Sequencing by mutations in the germline mutation statistics from genome- number variations, cis- preferences of

to unlock repeat gene INPP5K, in to a histone H4 wide association studies regulatory and deep- patients with an MONDAY expansion disorders inositol phosphatase gene highlights the Christian Benner*, A. intronic splice variants increased risk of Christoph J. Koenig, Y. Andreas Roos, M. Wiessner, importance of H4K91 Havulinna, M. Järvelin, V. of the ABCA4 locus bowel cancer; Family Tsai, D. Greenberg, T.A. D. Cox, R. Barresi, D. Hathazi, in DNA damage Salomaa, S. Ripatti, M. Pirinen; Miriam Bauwens*, R. Web Study survey Helsinki, Finland Clark; L. Swan, H. Lochmüller, J. response and cell Sangermano, T. Cherry, C. results informing Menlo Park, United States Senderek; cycle control Van Cauwenbergh, J. Gómez- website content. Newcastle Upon Tyne, United Skarmeta, N. Weisschuh, S. Federico Tessadori, J. Selina M.A. Goodman, H. Kingdom Kohl, B. Leroy, F. Cremers, E. Giltay, J. Hurst, M. Massink, Skirton, R. Jones; De Baere; K. Duran, K. van Gassen, Plymouth, United Kingdom Ghent, Belgium R. Scott, J. Bakkers, G. van Haaften; Utrecht, Netherlands TUESDAY 14.15 C07.6 C08.6 C09.6 C10.6 C11.6 C12.6 CLIP-Cap: Combined Homozygous variants The ciliopathy Genome-Wide Inferred New diagnostic Genomics Education Long-Insert Paired- in LMOD1 and MYLK protein Talpid3/ Statistics (GWIS) for biomarkers for at Scale End and Capture cause Megacystis KIAA0586 plays a role Homeostatic Model peroxisomal Michelle Bishop, E. Miller, sequencing, a novel Microcolon Intestinal upstream of Rab8 Assessment of β-cell biogenesis A. McPherson, A. Pope, A. method for the Hypoperistalsis activation in outer function and Insulin disorders revealed Seller; Birmingham, United analysis of complex Syndrome by segment formation Resistance by untargeted Kingdom genomic aberrations disruption of smooth and maintenance Iryna O. Fedko, M.G. Nivard, metabolomics Carolin Purmann, X. Zhu, J.J. Hottenga, Cross Consortia

muscle contractility in zebrafish retinal profiling include SATELLITES D. Palejev, J. Bernstein, J.F. Maria M. Alves, D. Halim, photoreceptors Pleiotropy (XC-Pleiotropy) significant reduction Group, Meta-Analyses of Hallmayer, A.E. Urban; E. Brosens, M.P. Wilson, I. Ojeda Naharros, F. Glucose and Insulin-related of sphingomyelin, Palo Alto, United States J.B.J.M. Verheij, F. Muller, Cristian, J. Zang, M. traits Consortium (MAGIC) bile acid alterations, M.F. Wangler, A. Beaudet, Gesemann, S.C.F. Neuhauss, Investigators, R. Mägi, I. and unique long chain M. Doukas, H.J. Stoop, B. de Ruxandra Bachmann- Prokopenko, D.I. Boomsma; Graaf, R.W.W. Brouwer, W.F.J. Gagescu; fatty acid elevations Amsterdam, Netherlands Sarah H. Elsea, L. Hubert, T. van Ijcken, Y. Han, V. Nanda, Zürich, Switzerland O.J. Slivano, C.K. Christie, K.L. Donti, M. Ventura, M. Miller, de Mesy Bentley, S. Xu, G. Jin, N. Braverman, M. Bose, W. D. Oliver, T. Djuwantono, W. RIzzo, R. Jones, A. Moser, Q. Yan, R. Kapur, A.J. Burns, D. Sun, A. Kennedy, M. Wangler; Tibboel, J.M. Miano, R.M.W. Houston, United States Hofstra; AWARDS Rotterdam, Netherlands 14.30 - Fruit break / Poster viewing / Exhibition 15.00

Presentations highlighted by an asterisk * and a grey background are from Young Investigator Award Finalists. INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 25 PROGRAMME SUNDAY, MAY 28

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam Cologne B-Halls 15.00 W05 W06 W07 W08 W09 W10 W11 Corporate – Defining Dysmorphology Prenatal Diagnosis Pharmacogeno- Including Gene Regulation Career de- Satellites GENERAL 16.30 ‚mutation‘ or 1 Organisers: mics diverse Organiser: velopment (see page ‚polymorphism‘ Organisers: Erik Iwarsson Organiser: populations Alexandre Reymond and funding 48-49 for using Dian Donnai; Ida Vogel William Newman in genomics opportu- details) prediction tools Jill Clayton Smith; Vita Dolzan Organisers: nities for Sofia Douzgou Organisers: Martina Cornel young inve- Malte Spielmann Vence L. Bonham stigators Martin Kircher Organiser Dominik Seelow Lude Franke 15.00 Welcome 15:00 Welcome Prenatal diagnosis of Contributors : Opening com- 15.00 The genetics of No information and opening and short histo- fetal structural abnor- Teri Klein, Stanford ments: transcription factor DNA available as remarks ry of syndrome malities in the PAGE University, USA Genetics in an binding variation per date of SATURDAY Malte Spielmann workshops project: results and Marylyn Ritchie, isolated popula- Bart Deplancke, Ecole printign. Dian Donnai reflections on exome Penn State Universi- tion like Fin- Polytechnique Fédérale de sequencing in 400 trios ty, USA land: a different Lausanne (EPFL), Lausanne, Jenny Lord basis for geno- Switzerland The Wellcome Trust mic medicine? Sanger Institute, Well- Helena Kää- come Genome Campus riäinen 15.03 Variants and 15:10 The Genomic Approaches The pharmacoge- Diversity and 15.30 Unveiling the polymorphisms Changing Face to Prenatal Diagnostics nomics workshop Inclusion in Ge- regulatory landscapes in the context of of Syndrome Michael E. Talkowski will consider some nomic Research: of genes involved in disease Diagnosis Departments of Neurolo- of the advances in Why the uneven pancreatic cancer using a SUNDAY Martin Kircher, Jill Clayton- gy, Psychiatry, and Pathol- pharmacogenomics progress? zebrafish model Dominik Seelow Smith ogy, Center for Genomic that are moving this Charles Rotimi Renata Carriço, I3S, Medicine, Massachusetts discipline more into Instituto de Investigação e General Hospital and the mainstream. Inovação, Universidade do Harvard Medical School The opportunities Porto, Porto, Portugal 15.15 Annotation 15:30 What is Microarray as standard afforded by pre- Increasing the 15.45 Functional dis- of variants the future of a analysis for a pregnant emptive testing, involvement section of the enhancer Martin Kircher, Dysmorphology population at increased point of care testing of diverse network in human Dominik Seelow Clinic: open risk for aneuploidy. and linked elec- populations in embryonic stem cells by discussion Results and their im- tronic health care genomics-based ChIP-STARR-seq Sofia Douzgou & plication on a change records. The work- health care – Stefan Baraka, Erasmus Joris Veltman to NIPT as standard Lessons from MC-University Medical

MONDAY shop will be interac- analysis. tive with opportuni- Haemoglobino- Center, Rotterdam, The Ida Vogel ties for participants pathies Netherlands Department of Clinical to share their own Helen Merrideth Genetics and Center experiences of Robinson for prenatal diagnosis, delivering clinical Aarhus University Hospital pharmacogeno- 15.30 Considera- 15:45 till end Non-invasive prenatal mics; the barriers Panel discussion 16.00 Effects of genetic tions for variant Case presenta- diagnosis for single- encountered and variation on promoter filtering tions gene disorders opportunities to usage (pmQTL) and en- Martin Kircher, Natalie Chandler overcome these. hancer activity (enQTL) Dominik Seelow NE Thames Regional Ge- Alexandre Fort, Depart-

TUESDAY netics Laboratory, Great ment of Genetic Medi- Ormond Street Hospital cine and Development, for Children NHS Founda- University of Geneva tion Trust Medical School, Geneva, Switzerland 15:45 Break Our workshop of Panel and floor discus- 16.15 Tissue-specific the following day sion expression and co- 15.50 Assessment will run, as usual- expression analyses of of variants ly, without a set gene families in human Martin Kircher, agenda but based brain regions to prioritize Dominik Seelow on case presenta- genes potentially impli- tions brought by cated into brain diseases

SATELLITES 16.10 Challenges the participants. Solène Brohard-Julien, of interpreting Centre National de Géno- non-coding va- For both work- typage, Institut de Génomi- riants shops, the que, CEA, Evry, France Martin Kircher, participants are Dominik Seelow invited to upload 16.20 Questions their presenta- and participant tions during the feedback break BEFORE the Malte Spielmann, workshop Martin Kircher, AWARDS Dominik Seelow 16.30 – Coffee break / Poster viewing / Exhibition 16.45 16.45 – Poster viewing with presenters and coffee - GROUP B 17.45 INFORMATION

26 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME SUNDAY, MAY 28 GENERAL

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam 17.45 S05 S06 S07 S08 E08 E609 - 3D genome Treatment-Focused Still the golden age New technologies in Multi-omics data Phakomatosis 19.15 architecture: non- Genetic Testing in of chromosomes Neurogenetics integration Update coding variants and Cancer Chair: Chair: Chair: Chair: human disease Chair: Erik Iwarsson Yanick J. Crow Lude Franke Hélène J. Dollfus Chair: Conxi Lazaro Karen Brøndum Nielsen Zeynep Tümer Malte Spielmann Anne-Marie Gerdes Uffe Birk Jensen SATURDAY

17.45 S05.1 S06.1 S07.1 S08.1 E08.1 E09.1 A 3D Code in the Circulating tumor The molecular 3D analysis of Functional Genomics Neurofibromatosis Human Genome DNA in cancer pathogenesis of commissural systems Phillip Beales; Update Erez Lieberman Aiden; monitoring trisomy 21 with light sheet London, United Kingdom D.R.Gareth Evans; Houston, United States Ellen Heitzer; Stylianos E. Antonarakis; microscopy Manchester, United Graz, Austria Geneva, Switzerland Alain Chédotal; Kingdom Paris, France

18.15 S05.2 S06.2 S07.2 S08.2

Long Range Next-generation Mosaic loss of Brain imaging SUNDAY regulation of sequencing: a chromosome Y - not genetics in mammalian gene change of paradigm that normal benign neurodevelopmental expression in molecular phenomenon after disorders 18.30 Doug Higgs; diagnostics of cancer all Barbara Franke; E08.2 E09.2 Oxford, United Kingdom David González de Lars Forsberg; Nijmegen, Netherlands Methods of Tuberous Sclerosis Castro; Uppsala, Sweden integrating genomics Complex Update Belfast, United Kingdom data Sergiusz Jozwiak; Marylyn Ritchie; Warsaw, Poland 18.45 S05.3 S06.3 S07.3 S08.3 Danville, United States

Hox gene regulation Precision cancer Introducing the Speaker and title to be MONDAY in development and medicine: translating emerging era of announced disease laboratory studies 'Cytogenomics' Denis Duboule; into improvements in Michael Talkowski; Geneva, Switzerland patient care Boston, United States Gabriel Capella; Barcelona, Spain

See https://2017.eshg.org/index.php/late-changes/ for speaker updates after the printing deadline. TUESDAY

Alicante B-Halls 19.15 Corporate Satellites – ESHG Membership Meeting (see page 49-50 for details) 20.15 All ESHG members welcome!

20.45 SATELLITES AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 27 28 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG SCIENTIFIC

SCIENTIFIC PROGRAMME Monday, May 29, 2017

PROGRAMME ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 29 Volume 100 Number 2 y 2, 2017 Februar

www.ajhg.org etics

The American Journal of Human Gen

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Stop by booth 264 to learn more about what ASHG has to offer and enter to win prizes! www.ashg.org PROGRAMME MONDAY, MAY 29 GENERAL

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam 08.30 E10 S09 S10 S11 S12 E11 - Whole-genome Explaining Population and Cancer Genetics and Strategies to avoid 10.00 haplotyping phenotypic evolutionary immunogenetics Microbiome sudden cardiac death methods for human variability genetics Chair: Chair: Chair: embryo selection Chair: Chair: Jose C. Machado Lude Franke Xavier Jeunemaitre Chair: Enza Maria Valente Maria Jesus Sobrido Emma Tham Thierry Voet Asbjørg Stray-Pedersen Robert Lyle SATURDAY 08.30 E10.1 S09.1 S10.1 S11.1 S12.1 E11.1 Karyo- and Meio- Oligogenic Genetic time travel Next-generation Microbiome Sudden Cardiac mapping for human inheritance and Johannes Krause; immunotherapies for host-pathogen Death in the Young embryo selection mutational load Jena, Germany colorectal cancer interactions Christopher Semsarian; Dagan Wells; Nicholas Katsanis; Noel de Miranda; Ramnik Xavier; Sydney, Australia Nuffield, United Kingdom Durham, United States Leiden, Netherlands Boston, United States

09.00 S09.2 S10.2 S11.2 S12.2 Genetic and Peopling of the world Dissecting tumor- Host-microbe epigenetic regulation Eske Willerslev; immune cell interaction

of repetitive DNA in Copenhagen, Denmark interactions using Jeroen Raes; SUNDAY relation to disease genomics tools Leuven, Belgium Silvère M. van der Zlatko Trajanoski; Maarel; Innsbruck, Austria 09.15 E10.2 Leiden, Netherlands E11.2 Volume 100 Number 2 Haplarithmisis for Recommendations y 2, 2017 Februar human embryo for the management selection of sudden cardiac www.ajhg.org 09.30 S09.3 S10.3 S11.3 S12.3 etics Joris R. Vermeesch; death The American Journal of Human Gen Leuven, Belgium Multiple molecular The origins of Adoptive T cell Genetics of the Florence Fellmann; diagnoses underlie farming therapy microbiome Lausanne, Switzerland some cases of Mark Thomas; Thomas Blankenstein; Alexandra Zhernakova; MONDAY apparent phenotypic London, United Kingdom Berlin, Germany Groningen, Netherlands

V olume 100 Number 2 P expansion Jennifer E. Posey, E. Karaca, Z.H. Coban ages 000–000 F Akdemir, X. Song, T. Harel,

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uar y 2, 2017 Bahrambeigi, D. Muzny, R.A. Gibbs, J.R. Lupski; Houston, United States

Published by Cell Press TUESDAY for The American Society of Human Genetics 12-01-2017 23:10:56 10.00 - Coffee break / Poster viewing / Exhibiton AJHG_100_2.c1.indd 1 10.15 10.15 - Poster viewing with presenters and coffee - GROUP C 11.15 B-Halls 11.15 - Lunch break / Posters / Exhibition Corporate Satellites 12.45 (see page 50-52 for details) SATELLITES AWARDS INFORMATION Stop by booth 264 to learn more about what ASHG has to offer and enter to win prizes! www.ashg.org ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 31 PROGRAMME MONDAY, MAY 29

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam 13.00 C13 C14 C15 C16 C17 C18 - Innovative Variant Population Genetics Reproductive Intellectual Disability Hereditary Cancer Internal organs GENERAL 14.30 Interpretation and Ancient DNA Genetics Chair: Chair: Chair: Chair: Chair: Chair: Koen Devriendt Kristiina Aittomäki Olaf Bodamer Robert M. Hofstra Inga Prokopenko Dijana Plaseska- Jelena Pozojevic Robert Winqvist Anna M. Lindstrand Brage S. Andresen Niels Tommerup Karanfilska Ida Vogel 13.00 C13.1 C14.1 C15.1 C16.1 C17.1 C18.1 Novel diagnostic gui- Extremely rare vari- Aging oocytes ac- Mutations in epi- The contribution of Mutations in the delines for prediction ants reveal patterns celerate regional genetic regulation rare variants, poly- leukemia inhibitory of variant spliceoge- of germline mutati- sequence diversity in genes are a major genic risk, and novel factor receptor nicity derived from a on rate heterogenei- humans and African cause of overgrowth candidate genes to (LIFR) gene and set of 311 combined ty in humans apes with intellectual the hereditary risk Lifr deficiency SATURDAY in silico and in vitro Sebastian Zoellner, J. Hákon Jónsson*, P. disability of breast cancer in a cause urinary tract studies: an interna- Carlson, BRIDGES Consor- Sulem, B. Kehr, S. Krist- Nazneen Rahman, C. large cohort of Breast malformations tional collaborative tium, J. Li; mundsdottir, F. Zink, E. Loveday, S. Yost, M. Clarke, Cancer families. Frank Brand, A. Kosfeld, Ann Arbor, United States Hjartarson, M.T. Hardarson, effort E. Ramsay, A. Zachariou, A. Paul A. James, N. Li, A.C. Weiss, M. Kreuzer, K.E. Hjorleifsson, H.P. Eg- Elliott, H. Wylie, S. Maham- Sophie Krieger, R. Leman, S. Rowley, D. Goode, L. M. Goerk, H. Martens, S. gertsson, S.A. Gudjonsson, dallie, S. Seal, E. Ruark, A. P. Gaildrat, M. Parsons, N. Devereux, S. McInerny, N. Schubert, A.K. Schäfer, V. L.D. Ward, G.A. Arnadottir, Ardissone, O. Rittinger, F. Boutry-Kryza, F. Bonnet-Do- Grewal, A. Trainer, LifePool, Riehmer, I. Hennies, J.H. E.A. Helgason, H. Helgason, Stewart, K. Temple, T. Cole, rion, M. Guillaud-Bataille, A. R. Scott, I. Campbell; Bräsen, L. Pape, K. Amann, A. Gylfason, A. Jonasdottir, K. Tatton-Brown; Rousselin, G. Davy, V. Caux- Melbourne, Australia L. Krogvold, A. Bjerre, A. Jonasdottir, T. Rafnar, Sutton, United Kingdom Montcoutier, S. Caputo, S. C. Daniel, A. Kispert, D.

SUNDAY M. Frigge, S.N. Stacey, O.T. Mazoyer, E. Rouleau, G. Ca- Haffner, R.G. Weber; Magnusson, U. Thorsteins- stelain, B. Wappenschmidt, Hannover, Germany dottir, G. Masson, A. Kong, T. Van Overeem Hansen, L. B.V. Halldorsson, A. Helga- Castéra, D. Muller, V. Bour- son, D.F. Gudbjartsson, K. don, F. Revillon, J. Sokolows- Stefansson; ka, F. Coullet, N. Sevenet, Reykjavík, Iceland A. Spurdle, A. Martins, C. Houdayer; Caen, France 13.15 C13.2 C14.2 C15.2 C16.2 C17.2 C18.2 PEDIA study Phase 2: Clustered de novo Interactome between Mutations in EBF3 Assessing risk of The microbiome of

MONDAY Prioritizing Exomes mutations with large embryo trophecto- disturb transcriptio- familial breast can- inflammatory bowel of unsolved patients intra-mutational derm cells and en- nal profiles and cause cer: effectiveness of disease and irritable with Image Analysis distance contribute dometrial epithelial intellectual disability, current UK guidelines bowel syndrome - a Peter M. Krawitz, I. Vrecar, to the maternal age and stromal cells: ataxia, and facial L.A. Littlejohn, J. Gibbs, case-control study of S. Kamphausen, J. Zschocke, effect novel insights into dysmorphism L.B. Jordan, Z.H. Miedzy- 1792 individuals D. Mitter, S. Wilson, G. Lyon, Jakob M. Goldmann*, implantation process Frederike L. Harms*, K.M. brodzka, C. Bell, D. Goudie, Arnau Vich Vila*, F. A. Orrico, I. Ivanovski, G. V. Seplyarskiy, T. Vilboux, Girisha, A.A. Hardigan, J. Dunlop, Jonathan N. Imhann, V. Collij, S. Rudolf, D. Wahl, L. Graul- in human Berg; D.L. Bodian, B.D. Solomon, Mariann Koel*, K. F. Kortüm, A. Shukla, M. Jankipersadsing, Z. Neumann, D. Horn, N. Ehm- Dundee, United Kingdom J.F. Deeken, J.A. Veltman, Krjutškov, A. Reddy, M. Saa- Alawi, A. Dalal, L. Brady, Mujagic, T. Gurry, A. ke, M.A. Mensah, C.E. Ott, R. W.S.W. Wong, C. Gilissen, re, S. Katayama, L. Kumar, M. Tarnopolsky, L.M. Bird, Kurilshikov, M.J. Bonder, Flöttmann, M. Coutelier, J.T. J.E. Niederhuber; K. Gemzell Danielsson, F. S. Ceulemans, M. Bebin, X. Jiang, D. Dijkstra, E.A.M. Pantel, U. Kornak, B. Fischer, TUESDAY Nijmegen, Netherlands Lanner, E. Einarsdottir, D. K.M. Bowling, S.M. Hiatt, Festen, R.J. Xavier, E.J. Alm, M. Jäger, M. Schubach, Blesa, C. Simon, J. Kere, A. E.J. Lose, M. Primiano, W.K. C. Wijmenga, D. Jonkers, A. S. Köhler, M. Spielmann, Salumets, S. Altmäe; Chung, J. Juusola, Z.C. Zhernakova, R.K. Weersma; P.N. Robinson, A. Knaus, Tartu, Estonia Akdemir, M. Bainbridge, W. Groningen, Netherlands B. Wollnik, M. Rodriguez Charng, M. Drummond- de los Santos, N. Hajjir, K. Borg, M.K. Eldomery, A.W. Boss, E. Mangold, A. Kaindl, El-Hattab, M.A.M. Saleh, S. Picker-Minh, H. Muhle, S. Bézieau, B. Cogné, B. M. Zenker, K. Hoffmann, P. Isidor, S. Küry, J.R. Lupski, Lorini, S. Mundlos; R.M. Myers, G.M. Cooper, K. Berlin, Germany Kutsche; Hamburg, Germany

SATELLITES 13.30 C13.3 C14.3 C15.3 C16.3 C17.3 C18.3 Genetic diagnosis of Admixture mapping Diagnostic value of Recurrent de novo The optimal cancer Whole-genome Mendelian disorders identifies Inuit ance- non-invasive pre- missense mutations genetics testing tool? sequencing identifies via RNA sequencing stry loci associated natal testing (NIPT) in small GTPase gene - Diagnostic whole associations of L.S. Kremer, Daniel M. with metabolic traits using genomic RAB11B cause severe genome sequencing sequence variants Bader*, C. Mertes, R. in the Greenlandic imbalance profiling intellectual disability in research partici- with clinically Kopajtich, G. Pichler, A. population (GIPseq) and a distinctive pants with multiple relevant urinary Iuso, T.B. Haack, E. Graf, T. Victor Yakimov*, L. Skot- Nathalie Brison, K. Van Schwarzmayr, C. Terrile, brain phenotype primary tumours disease markers te, A. Koch, B. Søborg, M. Den Bogaert, L. Dehaspe, Margot R.F. Reijnders*, James Whitworth*, NIHR Stefania Benonisdottir*, E. Konarikova, B. Repp, G. Andersson, S.W. Michelsen, H. Peeters, H. Van Esch, G. I.J.C. Lamers, H. Venselaar, BioResource - Rare Disease A. Oddsson, G. Sulem, R.P. Kastenmueller, J. Adamski, AWARDS M.L. Pedersen, F. Geller, M. Van Buggenhout, A. Vogels, A. Kraus, S. Jansen, B.B.A. de project, E. Martin-Rodri- Kristjansson, I. Olafsson, P. Lichtner, C. Leonhardt, Melbye, B. Feenstra; J. Breckpot, T. de Ravel, E. Vries, G. Houge, G. Aasland guez, P. Smith, H. West, F. P.T. Onundarson, B. B. Funalot, A. Donati, V. Copenhagen, Denmark Legius, K. Devriendt, J.R. Gradek, J. Seo, M. Choi, J. Rodger, A. Luchetti, A. Sky- Kehr, G.A. Arnadottir, H. Tiranti, A. Lombes, C. Jardel, Vermeesch; Chae, S.J.F. Letteboer, S.E.C. tte, J. Hoffmann, D. Evans, Holm, G. Masson, V.O. D. Glaeser, R.W. Taylor, D. Leuven, Belgium van Beersum, S. Dusseljee, F. Lalloo, E. Woodward, A. Edvardsson, R. Palsson, A. Ghezzi, J.A. Mayr, A. Roetig, H.G. Brunner, D. Doherty, T. Henderson, J. Adlard, J. Bar- Jonasdottir, A. Jonasdottir, P. Freisinger, F. Distelmaier, Kleefstra, R. Roepman; well, C. Brewer, K. Snape, H. E. Mikaelsdottir, G.I. T.M. Strom, T. Meitinger, J. Nijmegen, Netherlands Hanson, L. Izatt, L. Greenh- Eyjolfsson, B.O. Jensson, Gagneur, H. Prokisch; algh, L. Side, V. Ajith Kumar, U. Thorsteinsdottir, D.F. Munich, Germany M. Tischkowitz, E. Maher; Gudbjartsson, P. Sulem, K. Cambridge, United King- Stefansson; dom Reykjavik, Iceland INFORMATION

32 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME MONDAY, MAY 29 GENERAL

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam cont. C13 C14 C15 C16 C17 C18 Innovative Variant Population Genetics Reproductive Intellectual Disability Hereditary Cancer Internal organs Interpretation and Ancient DNA Genetics 13.45 C13.4 C14.4 C15.4 C16.4 C17.4 C18.4 Mutation spectrum Farming in Estonia Clinical implementa- A syndromic neurode- A somatic mutational Genome wide of NOD2 reveals re- was introduced by tion of non-invasive velopmental disorder signature in different association study cessive inheritance Early Bronze Age prenatal diagnosis is caused by de novo tumor types identifies two novel SATURDAY as a main driver of migrants from the (NIPD) for single disruption of the pro- associated with loci associated with Early Onset Crohn's Steppe gene disorders teasome regulatory biallelic germline female stress and Disease Lehti Saag*, L. Varul, C.L. Elizabeth C. Young, B. subunit PSMD12 NTHL1 mutations urgency urinary J. Horowitz, N. Warner, Scheib, J. Stenderup, M.E. Bowns, A. Gerrish, M. Parks, Sébastien Küry, T. Besnard, Judith E. Grolleman*, incontinence J. Staples, E. Crowley, R. Allentoft, L. Saag, L. Paga- S. Court, S. Cleary, S. Clokie, F. Ebstein, T.N. Khan, T. Gam- R.D.A. Weren, R.A. Kuiper, Rufus Cartwright*, Murchie, C. Van Hout, A.K. ni, M. Reidla, K. Tambets, J. Hewitt, D. Williams, T. bin, J. Douglas, C.A. Bacino, M. Nielsen, F.A. Elsayed, M. Jarvelin, P. Miotla, King, K. Fiedler, J.G. Reid, E. Metspalu, A. Kriiska, E. Cole, M. Griffiths, F. MacDo- S.J. Sanders, A. Lehmann, M.J.L. Ligtenberg, K. V. Khullar, P. Bennett, J.D. Overton, A.R. Shuldi- Willerslev, T. Kivisild, M. nald, S.K. Allen; X. Latypova, M. Pacault, K. Neveling, I. Rost, A. Lang, D. A. Walley, the IGNITE ner, A. Baras, A. Griffiths, F. Metspalu; Birmingham, United Khan, S. Sacharow, K. Glaser, Schindler, A. Dimovski, R.M. Consortium; Dewey, O. Gotessman, A. Tartu, Estonia Kingdom E. Bieth, L. Perrin-Sabourin, de Voer, T. van Wezel, N. London, United Kingdom Muise, Claudia Gonza- M. Jacquemont, M.T. Cho, K. Hoogerbrugge, R.P. Kuiper;

ga-Jauregui*; G. Monaghan, E. Roeder, A. Nijmegen, Netherlands SUNDAY Tarrytown, United States Denommé-Pichon, B. Yuan, F. Xia, S. Simon, D. Bonneau, P. Parent, K. Uguen, B. Gilbert- Dussardier, S. Odent, A. Toutain, L. Pasquier, D. Bar- bouth, C.A. Shaw, A. Patel, J.L. Smith, Weimin Bi, S. Schmitt, W. Deb, M. Nizon, S. Mercier, M. Vincent, C. Rooryck, V. Malan, I. Briceño, A. Gómez, K.M. Nugent, J.B. Gibson, B. Cogné, MONDAY J.R. Lupski, H.A.F. Stessman, E.E. Eichler, K. Retterer, Y. Yang, R. Redon, N. Katsanis, J.A. Rosenfeld, P. Kloetzel, C. Golzio, S. Bézieau, P. Stankiewicz, B. Isidor; Nantes, France 14.00 C13.5 C14.5 C15.5 C16.5 C17.5 C18.5 Podocytes differen- Complex spatio- Exome sequencing Biallelic variants of Genotoxic A PMM2 promoter tiated from urine temporal distribu- of 406 parental/fetal UBA5 reveal that dis- chemotherapies mutation causing renal precursor as tion and genogeo- trios with structural ruption of the UFM1 and X-rays are congenital polycystic

a tool for Alport graphic affinity of abnormalities re- cascade can result in responsible for the kidney and TUESDAY syndrome diagnosis mitochondrial DNA vealed by ultrasound early-onset encepha- development of hyperinsulinemic and for assessing haplogroups in in the UK Prenatal lopathy multiple primary hypoglycemia therapeutic strate- 24,216 Danes Assessment of Ge- Estelle Colin, J. Daniel, A. tumours in patients O. Rubio-Cabezas, S. gies based on pati- J. Bybjerg-Grauholm, C.M. nomes and Exomes Ziegler, J. Wakim, A. Scrivo, with Li-Fraumeni Flanagan, H. Stanescu, ent-derived cells Hagen, V.F. Goncalves, (PAGE) project T.B. Haack, S. Khiati, A. De- syndrome HI PKD Consortium, nommé, P. Amati-Bonneau, R. Kleta, K. Hussain, D. Sergio Daga*, M. Bal- M. Bækvad-Hansen, Dominic J. McMullan, J. Edwige Kasper, E. Ango, M. Charif, V. Procaccio, P. Bockenhauer, Sian Ellard; dassarri, C. Lo Rizzo, C. C.S. Hansen, P.L. Hedley, Lord, R. Eberhardt, G. Rinck, E. Colasse, L. Nicol, J. Reynier, K.A. Aleck, L.D. Botto, Exeter, United Kingdom Fallerini, V. Imperatore, I. J.K. Kanters, J. Nielsen, S. Hamilton, R. Keelagher, Sabourin, S. Adriouch, C.L. Herper, C.S. Kaiser, R. Longo, E. Frullanti, F. Aria- M. Theisen, O. Mors, J. L. Jenkins, E. Quinlan- Y. Lacoume, C. Le Clezio, Nabbout, S. N’Guyen, J.A. ni, M.A. Mencarelli, F. Mari, Kennedy, A.B. Demur, T.M. Jones, D. Williams, R. Scott, S. Raad, Y. Zerdoumi, T. Mora-Lorca, B. Assmann, SATELLITES A.M. Pinto, A. Renieri; Werge, M. Nordentoft, A. M. Kilby, L. Chitty, E. Maher, Frebourg, J. Flaman, G. S. Christ, T. Meitinger, T.M. Siena, Italy Børglum, P.B. Mortensen, M. Hurles; Bougeard; Strom, H. Prokisch, The FREX D.M. Haugaard, Michael Birmingham, United Rouen, France Consortium, A. Miranda- Christiansen; Kingdom Copenhagen, Denmark Vizuete, G.F. Hoffmann, G. Lenaers, P. Bomont, E. Liebau, D. Bonneau; Angers, France 14.15 C13.6 C14.6 C15.6 C16.6 C17.6 C18.6 Machine learning From lost empires to Evaluation of an Is Rett syndrome trea- Raising the age limit GREB1L and ROBO1 models for the modern cities with expanded carrier table? In vitro restora- for routine MMR -Two novel genes characterization of ancient GPS screening offer in tion of neuronal micro- testing in colorectal associated with renal genes associated Eran Elhaik, R. Das, M. a non commercial tubule dynamics and cancer from 50 to agenesis AWARDS with adult brain Pirooznia, U. Esposito; setting preclinical studies 70 years improves Maria Rasmussen, D.L. diseases Sheffield, United Kingdom Phillis Lakeman, S. van W. Gold, N.B. Sangani, T. La- recognition of new Lildballe, P.D. Brophy, M. Juan A. Botía, S. Guelfi, Koningsbruggen, E.J.W. cina, S. Williamson, G.P. Gian Lynch syndrome Parida, G. Bonde, X. Hong, J.C. Clarke, M. Schneider, K. D‘sa, J. Vandrovcova, J. Redeker, C.P.E. Ottenheim, Paolo Vallerini, L. Cantrill, A. families I.B. Mathijssen, M.C. Cornel, Kozikowski, John Christ- C.R. Sussman, L. Sunde, Hardy, M. Weale, M. Ryten; Nicoline Hoogerbrugge, M.M.A.M. Mannens, E.J. odoulou; J.M. Hertz, M. Ramsing, A. London, United Kingdom I.E. Fakkert, R.W. Willems, Meijers-Heijboer, L. Hen- Parkville, Australia Petersen, R.A. Cornell, J.R. Y.K. Peeks, S. Langenveld, neman; Manak; I.D. Nagtegaal, E.M. Leter,

Amsterdam, Netherlands Aarhus, Denmark INFORMATION A.R. Mensenkamp, L. Spruijt, M.J. Ligtenberg; Nijmegen, Netherlands 14.30 - Fruit break / Poster removal / Exhibition 15.00 Presentations highlighted by an asterisk (*) and a grey background are from Young Investigator Award finalists.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 33 PROGRAMME MONDAY, MAY 29

Time Aarhus Athens Copenhagen Cannes Alicante Amsterdam Ancona B-Halls 15.00 W12 W13 W14 W15 W16 W17 W18 Corporate – Big Data Dysmorphology Copy Number Multi-gene Ensuring the quality Quality assurance ENSEMBL & Satellites GENERAL 16.30 in Human 2* Variant hereditary of genetic counseling in interpretation GENCODE (see page Genetics: Organisers: Interpretation cancer panels: Organisers: and reporting Organisers: 52-53 for opportunities Dian Donnai; and balancing Elisabetta Razzaboni in genome wide Ben Moore details) and Jill Clayton Smith; Classification clinical utility Francesca Forzano diagnostics Amonida Zadissa Sofia Douzgou Adam Frankisch challenges Organisers: and research Organisers: Organisers: Conny van interest Luca Lovrecic Kristel Van Steen Ravenswaaij-Arts Organisers: Ales Maver Bertram Mueller- Nicole de Leeuw Conxi Lazaro Myhsok Joan Brunet Invited speakers / The workshops- The aim of this 15.00-15.10 Ensuring quality in Addressing the varia- This joint work- case studies: will discuss com- workshop is to Utility of panel te- service provision bility of interpreting shop is organised SATURDAY Big data in plex undiagnosed focus on vari- sting in hereditary Prof Christine Patch single nucleotide and will be genetic studies: cases with di- ous aspects of cancer: a laborato- Florence Nightingale variants presented by contrasting stinctive features copy number ry perspective Faculty of Nursing & Sandi Deans, Consul- Ben Moore and light phenoty- and patients with variant (CNV) H. A. Lindsay Midwifery, King’s College tant Clinical Scientist, Amonida Zadissa, ping with clini- known diagnoses interpretation United Kingdom London, UK, Clinical Lead Scheme Director, UK from Ensembl and cal dissection which are particu- and classification for Genetic Counselling, NEQAS for Molecular Adam Frankish Cathryn Lewis, larly educational in a diagnostic Genomics England, Queen Genetics AND Depart- from HAVANA. Genetic Epide- and demonstrate setting. We Mary University of London ment of Laboratory Me- It is aimed at miology and new clinical infor- will talk about President Elect ESHG dicine, Royal Infirmary attendees familiar Statistics, King's mation or geno- multi-, intra- and of Edinburgh, UK with Ensembl, College London, mic mechanisms. intergenic CNVs including the SUNDAY UK Cases for presen- detected by bioinformatics Challenges of tation should be genome wide ar- 15.10-15.20 Ensuring professional Clinical Laboratories community. high-dimensio- brought to the ray analysis, but Performance of a competence Implement the ACMG/ nal data for ma- auditorium in also CNV detec- 94-gene panel for Prof. Heather Skirton AMP Guidelines to After an intro- chine learning the break before tion in Whole cancer predispo- Applied Health Genetics, Resolve Differences in duction to the in genomics the workshop Exome Sequenc- sition on Greek Plymouth University, Chair Variant Interpretations Ensembl genome Chloé-Agathe starts. Places for ing data will be breast and ovarian of the European Board of Submitted to ClinVar browser (20 mins), Azencott, Centre presentation are included. We will cancer patients Medical Genetics Steven Harrison, Har- participants will for Computa- allocated on a use illustrative fulfilling the NCCN vard Medical School Ge- find out how to; tional Biology first come, first cases from our criteria for genetic netics Training Program, - annotate their (CBIO), Mines serve basis. Each own diagnostic testing Laboratory for Molecu- own SNPs and

MONDAY ParisTech, Institut presenter is asked laboratories to F. Fostira lar Medicine, Partners CNVs with the VEP Curie and IN- to give a concise have an interac- Greece HealthCare Personalized (20 mins) SERM outline of their tive discussion Medicine,Cambridge, case and demon- on the more MA, USA - investigate quick Interactive strate the relevant challenging 15.20-15.30 Quality control pro- Results of the CLARITY alternatives to the brainstorming, features in a short findings, includ- Next-generation grams UNDIAGNOSED chal- browser (e.g Bio- take-home (approximately 6 ing reduced- sequencing via Dr Ros Hastings, lenge. Crossing the Mart and the REST messages and slides) PowerPoint penetrant, TruRisk® genepa- Women's Centre, John border of genome-wide API) (30 mins) future perspec- presentation. The recurrent CNVs nel reveal high mu- Radcliffe Hospital, Oxford approaches where the tives for human discussion of the and structur- tation prevalence University Hospitals NHS clinical domain traver- - find information geneticists case will then be ally rearranged in additional risk Foundation Trust, UK, ses into the research about the GENCO- facilitated by the chromosomal genes in German Quality SC Chairperson domain DE gene set and TUESDAY workshop chairs imbalances as BRCA1/2-negative ESHG annotation pro- with comments well as patients breast and ovarian cess (20 mins) invited from with compound cancer families experts in the au- heterozygous Dr. Eric Hahnen Participants can dience. No pho- variants in a Germany follow along with tographs of slides recessive disease 15.30-15.40 Evaluating outcomes The second part of the the demonstrati- should be taken gene. Use of a custom- from return of results workshop is dedicated ons in this work- in the session. designed NGS- to maximize quality in to those routinely shop if they wish, This workshop hereditary cancer genetic counseling. working with novel and for this purpo- uses the voting sy- panel increases Prof. Barbara Biesecker diagnostic approaches se should bring a stem in the ESHG the diagnostic Genetic Services Unit, Di- and try to explore fully charged WiFi conference app. yield in the clinical rector, Genetic Counseling the strategies diffe- enabled laptop SATELLITES Go to "Interactive" setting Training Program, National rent institutions and -> "All Sessions" J. del Valle Human Genome Research countries follow when ->W14... Spain Institute, Bethesda, USA providing these tests to 15.40-16.30 Genetic and genomic te- the patients. If you did not Round Table sting in mainstreaming yet download Discussion healthcare and public This workshop uses the the app, go to health services voting system in the https:2017.eshg. Martina Cornel ESHG conference app. org/index.php/ VU University Medical Go to "Interactive" -> "All voting to vote Center, Amsterdam, Sessions" ->W17... via your mobile Netherlands, Chair Public AWARDS browser. & Professional Policy If you did not yet down- Committee of ESHG load the app, go to https:2017.eshg.org/ index.php/voting to vote via your mobile browser. 16.30 – Coffee break / Poster viewing / Exhibition 16.45 16.45 – Poster viewing with presenters and coffee - GROUP D 17.45 INFORMATION

34 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME MONDAY, MAY 29 GENERAL

Time Aarhus Athens Alicante Antwerp Room 115+116 Ancona 17.45 S13 S14 S15 E12 E13 S16 - Next generation Organoid models: ESHG / ESC JOINT The evolution of Network Medicine Autophagy in health 19.15 clinical genetics The Maxi Impact Of Symposium: genetic counseling: Chair: and disease Chair: Mini Organs Polygenic Lessons learned from Kristel Van Steen Chair: Gunnar Houge Chair: Cardiovascular traits psychotherapy Brunella Franco Valtteri Wirta Brunhilde Wirth Chair: Chair: Trine Prescott Lars A. Larsen Xavier Jeunemaitre Sam Riedijk Michael Christiansen SATURDAY

17.45 S13.1 S14.1 S15.1 E12.1 E13.1 S16.1 Integrating Dissecting human Implications of The added value of Mining biological Autophagy gets to the Phenomic and chimpanzee understanding psychotherapy in the networks the bone and Genomic cerebral organoids the genetic basis genetic counselling Nataša Pržulj; Carmine Settembre; Architectures of using single-cell of coronary artery process London, United Kingdom Naples, Italy Developmental RNA-seq disease Ramona Moldovan; Disorders J. Camp, S. Kanton, F. Nilesh J. Samani; Cluj-Napoca, Romania David FitzPatrick; Badsha, F. Mora-Bermudez, Leicester, United Kingdom Edinburgh, United S. Pääbo, W. Huttner, Kingdom Barbara Treutlein; SUNDAY Leipzig, Germany

18.15 S13.2 S14.2 S15.2 S16.2 The clinical Common Genetics of arterial Autophagy in geneticists' mechanisms blood pressure: metabolic processes perspective on between Zika from common to Romeo Ricci; exome sequencing virus-induced rare variants in the Illkirch, France Anita Rauch; E12.2 E13.2 18.30 and inherited general population Zurich, Switzerland microcephaly Patricia Munroe; Genetics and Cellular Networks London, United Kingdom Family Dynamics: and Human diseases in human brain MONDAY organoids Navigating the Amitabh Sharma; Boston, United States Jay Gopalakrishnan; Sometimes Bumpy Cologne, Germany Road to Effective 18.45 S13.3 S14.3 S15.3 Communication S16.3 Fast-WES for Liver organoids for The genetic Susan H. McDaniel; Autophagy in neonates, how useful the study of liver architecture of type 2 Rochester, United States neurodegeneration is it really? biology and disease diabetes and ageing Gijs Santen; Meritxell Huch; Philippe Froguel; Nektarios Tavernarakis; Leiden, Netherlands Cambridge, United Lille, France Crete, Greece Kingdom TUESDAY 20.00 Networking Party at the 0ksenhallen (at own expense - Ticket required) SATELLITES AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 35 36 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG SCIENTIFIC

SCIENTIFIC PROGRAMME Tuesday, May 30, 2017

PROGRAMME ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 37 ESHG 2018 MARK YOUR CALENDARS

Invitation to the conference General Information

Dear Colleagues and Friends, The European Society of Human Genetics promotes research in basic and applied human and medical genetics and facilitates contact between all persons who share On behalf of the board of the European Society of Human Genetics, I would like to these aims. cordially invite you to attend the European Human Genetics Conference 2017, from EUROPEAN HUMAN May 27-30, in Copenhagen, Denmark. This international conference (now in its 51st year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The th The ESHG 2017 marks the 50 Anniversary of the rst ESHG Conference which took conference has become one of the premier events in the eld of human genetics GENETICS CONFERENCE 2018 place in Copenhagen in 1967. In commemoration of this event, we have chosen the with over 3.000 delegates, more than 250 oral presentations, 18 workshops and Bella Center in Denmark’s capital as the venue for our next meeting. MiCo | Milan - Italy | June 16 - 19 12 educational sessions. The ESHG conference is where the latest developments in human genetics are discussed and where professionals from all parts of human Denmark is not only renowned for the Little Mermaid, Hans Christian Andersen and Niels genetics meet. Bohr, but also for Danish Design and the “New Nordic Cuisine”. Landing at Copenhagen airport, you will have a wonderful view of “The Bridge” connecting Denmark and Sweden. Copenhagen is one of the most vivid cities in northern Europe, although it Programme Overview is also referred to as Northern Europe’s cosiest capital; a city full of street cafés, design Invited Plenary lectures and Symposia | ESHG Award and Mendel lectures | Educational shops and some of the best restaurants in Scandinavia. From the winding streets of the Track throughout the meeting | Workshops | Concurrent sessions from submitted beautiful old town and the grand royal palaces to the city’s cutting-edge buildings and abstracts | Poster presentations of submitted abstracts | Young Scientist and Poster attractions, Copenhagen is a great mix of the old and the new world. Awards | Conference Fellowships for young researchers | Fellowships of Excellence | Fellowships for National Societies | Corporate Satellites | Over 160 exhibitors from Copenhagen is also known for being an international hub for science. It is number one in all over the world Europe in terms of clinical trials per capita and number two in the world for developing biotechnology. In fact, COBIS, the Copenhagen Bio Science Park, was named the world’s Further Details best biotech incubator in 2011. Furthermore, the newly built Copenhagen Science City The website 2018.eshg.org will open in October 2017. with its Niels Bohr Building are signi cant investments of the Danish government to enhance science and to attract the world’s best scientists. Abstract Submission Online via 2018.eshg.org. Closing date: Friday, February 9, 2018 The combination of history, culture and science led us to choose Copenhagen as the best place to celebrate our 50th Anniversary. Among other highlights, the ESHG 2017 Scienti c & Administrative Conference Secretariat conference will provide the latest ndings in the eld of basic and applied human ESHG 2018 c/o Vienna Medical Academy genetics. Thanks to the excellent programme committee selecting the best speakers Alser Strasse 4, 1090, Vienna, Austria and outstanding presentations, we are looking forward to a highly inspirational Tel: +43 1 405 13 83 11 meeting which should not be missed. Email: [email protected]

See you in Copenhagen in 2017! Exhibition, Sponsoring, Corporate Satellites Christine Patch Rose International President P.O.Box 93260, 2509 AG The Hague, The Netherlands European Society of Human Genetics Tel: +31 70 383 8901 Email: [email protected] EUROPEAN SOCIETY OF HUMAN GENETICS

2018.eshg.org @eshgsociety www.eshg.org | @eshgsociety | #eshg2018 www.eshg.org | @eshgsociety | #eshg2018 facebook.com/eshg.org #eshg2018 PROGRAMME TUESDAY, MAY 30 GENERAL

Time Aarhus 09.00 PL3 - ESHG-ASHG Building Bridges Debate: Ethical and Legal Discussions - Past, Present & Future 10.30 Moderators: Joris Veltman, Francesca Forzano, Peter Scacheri

09.00 PL3.1 Reflecting on ethics in genetics: The past, present and future Ruth Chadwick; Manchester, United Kingdom SATURDAY

09.10 PL3.2 ELSI issues and the implementation of genetics in clinical practice Mats Hansson; Uppsala, Sweden

09.20 PL3.3 The Evolution of Genetic Counseling: Effectively Meeting Our Clients‘ Needs Barbara B. Biesecker;

Bethesda, United States SUNDAY

09.30 PL3.4 From Medical Genetics to Applied Genomics: Implications for Human Geneticists' Core Goals and Values Eric Juengst; Chapel Hill, United States

09.40 Interactive dicsussion with the audience MONDAY

10.30 - Coffee Break 11.00 TUESDAY SATELLITES AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 39 PROGRAMME TUESDAY, MAY 30

Time Aarhus Copenhagen Cannes Alicante Amsterdam 11.00 C19 C20 C21 C22 C23 - Diagnostic variant Molecular Cardiovascular disorders Systems Genetics Neurogenetics 2 GENERAL 12.30 interpretation and syndromology Chair: Chair: Chair: quality control Chair: Julie McGaughran Ellen Heitzer Jens Michael Hertz Chair: Jill Clayton-Smith Cecilia Gunnarsson Ole Johan Borge Hans Scheffer André Reis Rocio Acuna Hidalgo Toril Fagerheim 11.00 C19.1 C20.1 C21.1 C22.1 C23.1 The spectrum of se- Mutations in the cadhe- Inactivation of KLHL24 is Four glycaemic trait trans- Complex cis-interaction quence and copy-num- rin-catenin complex in associated with hyper- ethnic genome-wide asso- is responsible for the ber variants in 80,000 Blepharo-Cheilo-Dontic trophic cardiomyopathy ciation meta-analyses using craniofacial and neuro- patients: Implications for Syndrome and abnormal glycogen densely imputed genetic anatomical defects of

SATURDAY test development and Anneke Kievit, F. Tessadori, J. storage in heart and data in up to 281,416 non- the 4p16.1 copy number validation Douben, I. Jordens, M. Maurice, skeletal muscle diabetic individuals variant. Stephen Lincoln, R. Truty, J. A. Hoogeboom, R. Hennekam, C. Hedberg-Oldfors, A. Abrams- Inga Prokopenko, for the Meta- Gaëlle Hayot*, C. Bonnet, N. Zook, C. Huang, M. Ferber, B. S. Nampoothiri, H. Kayserili, M. son, D.P.S. Osborn, O. Daniels- Analyses of Glucose and Insulin- Katsanis, C. Golzio; Shirts, R. Garlick, M. Salit, S. Castori, M. Whiteford, C. Mot- son, A. Fazlinezhad, L. Hübbert, I. related traits Consortium (MAGIC) Illkirch-Graffenstaden, France Aradhya, R. Nussbaum; ter, C. Melver, M. Cunningham, Nennesmo, K. Visuttijai, J. Bharj, Investigators; San Francisco, United States A. Hing, N. Kokitsu-Nakata, S. E.G. Karimiani, E. Petropoulou, London, United Kingdom Vendramini-Pittoli, A. Richieri- A. Shohreim, R.K. Banote, R. Ma- Costa, A. Baas, C. Beugem, K. roofian, M. Edling, M. Taherpour, Duran, M. Massink, P. Derksen, H. Zetterberg, A. Oldfors, Yalda W.F.J. van IJcken, L. van Unen, Jamshidi; SUNDAY F. Santos-Simarro, P. Lapunzi- London, United Kingdom na, V.L. Gil-da Silva Lopes, E. Lustosa-Mendes, M. Krall, A. Slavotinek, V. Martinez-Glez, J. Bakkers, K.L.I. van Gassen, A. de Klein, M.J. van den Boogaard, G. van Haaften; Rotterdam, Netherlands

11.15 C19.2 C20.2 C21.2 C22.2 C23.2 ClinGen Sequence Vari- Heterozygous loss- Epigallocatechin-3-galla- Expression insights into the Foxp1 is essential for sex-

MONDAY ant Interpretation Work of-function ACTB te prevents cardiac hy- human miRNA-mRNA inter- specific murine neonatal Group recommendations mutations result in a pertrophy in a Williams- actome ultrasonic vocalization for ACMG-AMP guideline novel developmental Beuren syndrome mouse Olga M. Plotnikova*, M.Y. Skoblov; Henning Fröhlich, R. Rafiul- specification syndrome model Moscow, Russian Federation lah, N. Schmitt, S. Abele, G.A. Steven M. Harrison*, H. Rehm, S. Cuvertino, H. Stuart, K.E. Paula Ortiz-Romero*, G. Rappold; M. Greenblatt, L.G. Biesecker, Chandler, N.A. Roberts, R. Aranaz, L.A. Perez-Jurado, V. Heidelberg, Germany ClinGen Sequence Variant Inter- Armstrong, L. Bernardini, S. Campuzano; pretation Working Group; Bhaskar, B. Callewaert, J. Clay- Barcelona, Spain Cambridge, United States ton-Smith, C.H. Davalillo, C. Deshpande, K. Devriendt, M.C. Digilio, A. Dixit, M. Edwards,

TUESDAY J.M. Friedman, S. Joss, B. Kerr, A.K. Lampe, R. McGowan, M.D. Medt, J. O’Sullivan, S. Odent, M.J. Parker, C. Pebrel-Richard, F. Petit, Z. Stark, S. Tinschert, P. Vasudevan, O. Villa, &.M. White, F. Zahir, The DDD study, R. Lennon, A.S. Woolf, Sidd- harth Banka; Manchester, United Kingdom 11.30 C19.3 C20.3 C21.3 C22.3 C23.3 ClinGen: The Clinical Variants in the degron Generalized compound Deconvolution of whole Dominant mutations in SATELLITES Genome Resource motif of AFF3 cause a heterozygosity analysis blood eQTLs into rare immu- DCC cause isolated age- Danielle R. Azzariti, E.R. Riggs, multi-sytem disorder highlights associated ne-subpopulations uncovers nesis of the corpus cal- J.S. Berg, C.D. Bustamante, with skeletal dysplasia loci for coronary artery key players of immune medi- losum with sex specific K.A.B. Goddard, M.J. Landrum, and severe neurologic disease in genetic and ated diseases penetrance D.H. Ledbetter, C.L. Martin, S.E. Raul Aguirre-Gamboa*, N. de A.P.L. Marsh, D. Heron, T.J. Plon, E.M. Ramos, M.S. Watson, involvement exome data Norine Voisin*, R.E. Schnur, M.Loretto Munoz*, M. Munz, Klein, D.V. Zhernakova, P. Deelen, M.J. Edwards, A. Quartier, A. Rastet- M.S. Williams, H.L. Rehm, on S. Douzgou, A.J. Tanaka, C.F. D. Gola, L. Zeng, T. Keßler, I.R. Bonder, Z. Borek, Swertz, I. Jonkers, S. ter, C. Nava, S. Heide, B. Keren, behalf of the Clinical Genome Rustad, S.M. Hiatt, E. Del Gi- König, H. Schunkert, J. Erdmann; Withoff, Joosten, V. Kumar, H.J.P.M. C. Mignot, C. Garel, A. Faudet, Resource; udice, A. Mikhaleva, The DDD Lübeck, Germany Koenen, M. Netea, C. Wijmenga, L. C. Galea, G. Mcgillivray, S.A. Cambridge, United States study, B. Yalcin, D. Donnai, N. Franke, Li; Mandelstam, S. Odent, M. Bahlo,

AWARDS Brunetti-Pierri, A. Reymond, Groningen, Netherlands J. Mandel, A. Piton, A. Méneret, W.K. Chung; E. Roze, M. Moutard, T. Billette, Lausanne, Switzerland E.H. Sherr, R.J. Leventer, L.J. Richards, P.J. Lockhart, Christel Depienne; Illkirch, France

Presentations highlighted by an asterisk (*) and a grey background are from Young Investigator Award finalists. INFORMATION

40 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME TUESDAY, MAY 30 GENERAL

Time Aarhus Copenhagen Cannes Alicante Amsterdam cont. C19 C20 C21 C22 C23 Diagnostic variant Molecular syndromology Cardiovascular disorders Systems Genetics Neurogenetics 2 interpretation and quality control 11.45 C19.4 C20.4 C21.4 C22.4 C23.4 High-resolution variant KIAA1109 variants are Copy number variants Adipose cis-eQTL variants WD40-repeat 47 is es-

filtering empowers cli- associated with a severe account for at least 2% of at enhancer-promoter sential for brain develop- SATURDAY nical interpretation and disorder of brain deve- non-syndromic cardio- interaction circuits regu- ment via microtubule- provides insights into lopment and arthrogry- myopathies late obesity genes mediated processes and variant penetrance and posis Frank Honti*, G. Beaman, M. D.Z. Pan, K. Garske, A. Ko, Y. autophagy population-specificity Lucie Gueneau, R. Fish, H. Edwards, T. Monk, S. Wilkinson, Bagat, M. Alvarez, C.K. Raulerson, Binnaz Yalcin, M. Kannan, Nicola Whiffin*, E. Minikel, R. Shamseddin, N. Voisin, F. Tran L. Brett, S. Cook, J.S. Ware, W.G. J. Sinsheimer, K.L. Mohlke, M. C. Wagner, M. Ross, B. Rinaldi, Walsh, A. O’Donnell-Luria, K. Mau-Them, E. Preiksaitiene, G. Newman, D. Morris-Rosendahl; Laakso, Paivi Pajukanta; P. Kretz, L. McGillewie, S. Bär, Karczewski, A.Y. Ing, P.J.R. Barton, Monroe, F. Allias, Q. Ambosaidi, London, United Kingdom Los Angeles, United States S. Minocha, C. Po, J. Chelly, J. B. Funke, S.A. Cook, D.G. Ma- L. Ambrozaityte, L. Cimbalistiene, Mandel, R. Borgatti, A. Piton, S. cArthur, J.S. Ware; J. Delafontaine, N. Guex, M. Collins, C. Kinnear, Y. Hérault, S. London, United Kingdom Hashem, W. Kurdi, T. Pippucci, Friant, B. Loos; S. Pradervand, B. Roechert, P. Illkirch, France Van Hasselt, M. Wiederkehr, C. SUNDAY Wright, DDD Study, I. Xenarios, G. Van Haaften, C. Shaw-Smith, E. Schindewolf, M. Neerman-Arbez, J. Chelly, V. Kucinskas, F. Alkura- ya, A. Reymond; Lausanne, Switzerland

12.00 C19.5 C20.5 C21.5 C22.5 C23.5 External Quality Assess- Heterozygous BMP2 A major beneficial effect Trans-eQTL analysis in ATPase-deficient ATAD3A ment of Clinical Genetics: mutations leading to of angiotensin II receptor 25,000 individuals reveals alters mitochondrial from pilot assessment to haploinsufficiency cause blockade for preventing clear differences between dynamics in hereditary MONDAY full EQA scheme a recognisable human spontaneous aortic diseases in the types and spastic paraplegia Conny M. van Ravenswaaij- syndrome comprising rupture in a new mouse number of causally invol- Rosa A. Woldegebriel*, H.M. Arts, C. van Asperen, C. Ben- short stature, palatal model of vascular Ehlers ved biological pathways Cooper, Y. Yang, E.A. Ylikallio, R. jamin, L. Garavelli, B. Peterlin, anomalies, congenital Danlos syndrome Annique Claringbould*, U. Khairullin, K. Lin, L. Euro, E. Palin, M. Nielsen, T. De Ravel, L. Tra- A. Wolf, R. Trokovic, P. Isohanni, S. E. Fontaine, J. Faugeroux, I. Vōsa, eQTLGen Consortium, T. nebjaerg, K. Usha, K. Writzl, R. heart disease and skeletal Kaakkola, M. Auranen, T. Lönnq- Loisel-Ferreira, F. Vignol, A. Gian- Esko, L. Franke; Hastings; malformations vist, S. Wanrooij, H. Tyynismaa; fermi, H. Nematalla, P. Bruneval, Groningen, Netherlands Groningen, Netherlands Tiong Y. Tan, E. Bhoj, K. Strauss, Helsinki, Finland K. Brigatti, E. Puffenberger, D. J. Hadchouel, E. Messas, Xavier Li, C.G. Gonzaga-Jauregui, P.J. Jeunemaitre; Paris, France Simm, B.O. Jones, M. Raabus, L. TUESDAY Miles, M. Ramialison, J. Kaslin, N.L. Baker, P.G. Farlie; Parkville, Melbourne, Australia 12.15 C19.6 C20.6 C21.6 C22.6 C23.6 Assessing clinical consi- Reverse phenotyping of Patterns of co-occurrence Men with LOY and cells Mutation of ribosomal stency among inconsi- whole-genome sequen- of congenital heart without the Y chromo- RNA-processing protein 7 stent variant classifica- cing data from patients defects follows distinct some - transcriptomes homolog A (RRP7A) cau- tions with 22q11.2 deletions patterns and functional effects se autosomal recessive Stephen Abbs, D. Moore, F. identifies an extensive ca- S.G. Ellesøe, C.T. Workman, P. studied in 6000 single microcephaly with intel- Khawaja, Z. Deans; talog of broader phenoty- Bouvagnet, C.A. Loffredo, K.L. cells by RNA sequencing lectual disability SATELLITES Cambridge, United Kingdom pic variability and benign McBride, R.B. Hinton, K. van using the 10X Chromium Muhammad Farooq, L. Lind- Engelen, E.C. Gertsen, B.J.M. bæk, N. Krogh, V.S. Nielsen, M. variation in pathogenic Mulder, A.V. Postma, R.H. Ander- platform disease genes Jonatan Halvardson, M.D. Mönnich, S. Sakthivel, C. Dog- son, V.E. Hjortdal, S. Brunak, Lars anli, Y. Mang, A. Fatima, M.S. Matthew S. Hestand, B.A. Fernow, H. Davies, C. Rasi, J.P. A. Larsen; Hussain, K. Møllgård, H. Eiberg, Nowakowska, E. Vergaelen, W. Dumanski, L.A. Forsberg; Copenhagen, Denmark L. Hansen, K.W. Kjær, H. Nielsen, Demaerel, J. Breckpot, D.J. Cutler, Uppsala, Sweden S.M. Baig, N. Tommerup, S.T. T.B. Crowley, M. Armando, N. Christensen, L.A. Larsen; Philip, G. Repetto, M. Schnei- Copenhagen, Denmark der, S. Eliez, K. Devriendt, D.M. McDonald-McGinn, B.E. Morrow, A. Swillen, J.R. Vermeesch, Inter- AWARDS national 22q11.2 Brain Behavior Consortium; Amsterdam, Netherlands 12.30 - Lunch Break 13.30 INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 41 PROGRAMME TUESDAY, MAY 30

Time Aarhus 13.30 Plenary Session PL4 - Mendel Lecture GENERAL 14.15 Chair: Christine Patch, Joris A. Veltman

13.30 PL4.1 Reading and Writing Genomes George Church; Boston, United States

Introduction by Joris A. Veltman 14.15 Plenary Session PL5 - ESHG Award and Closing Session SATURDAY 15.45 Chair: Christine Patch, Joris A. Veltman

14.15 PL5.1 X-chromosome structure and epigenetic dynamics during X inactivation Edith Heard; Paris, France

Laudation by Joris A. Veltman

15.00 Plenary Session PL6 SUNDAY - Awards Session 15.45 Chair: Christine Patch, Joris A. Veltman

ESHG Education Award to Ségolène Aymé Laudation by Christine Patch

EJHG-NGP Awards

ESHG Young Investigator Awards: • ESHG Young Investigator Awards for Outstanding Science MONDAY • Isabelle Oberlé Award for an outstanding presentation in the field of genetics of mental retardation • Lodewijk Sandkuijl Award for an outstanding presentation in the field of complex disease genetics and statistical genetics • Vienna Medical Academy Award for an outstanding presentation in translational genetic research/therapy of genetic diseases • Mia Neri Award for an outstanding presentation in the field of childhood cancer

ESHG Poster Awards in clinical research and basic science

Closing TUESDAY

At the end of the Awards Plenary Session, three Apple iPads mini will be drawn among the attendees, who have had their badges scanned at the entrance of the Plenary Hall before the start of the afternoon plenary sessions. SATELLITES AWARDS INFORMATION

42 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME

PROGRAMME INFORMATION SPONSORED SESSION CORPORATE SATELLITE MEETINGS BUSINESS MEETINGS YOUNG INVESTIGATOR AWARD CANDIDATES POSTER AWARD CANDIDATES

INFORMATION ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 43 PROGRAMME SPONSORED SESSION, Saturday, May 27 Saturday, May 27, 08.15 - 10.15 hrs

GENERAL Time Aarhus 08.15 Sponsored Educational Session E01 - Sequencing, sponsored by Illumina 10.15 Chair: Joris A. Veltman

08.15 E01.1 The Future of Genomic Medicine Elaine Mardis; Columbus, United States

SATURDAY 08.45 E01.2 Deep Sequencing of 10,000 Human Genomes Amalio Telenti; San Diego, United States

09.15 E01.3 Increasing the diagnostic yield of genome-wide sequencing for rare diseases Kym M. Boycott; Ottawa, Canada

SUNDAY 09.45 E01.4 Medical genome sequencing in the 100,000 Genomes Project Rare Disease Programme Richard H. Scott; London, United Kingdom MONDAY TUESDAY SATELLITES AWARDS INFORMATION

44 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME CORPORATE SATELLITES GENERAL Overview

Company Room Page

Saturday, May 27, 2017, 12.15 - 13.45 hrs CS01 Canon BioMedical...... Birmingham...... 46 CS02 BD Life Sciences...... Belgrade...... 46 SATURDAY

Sunday, May 28, 2017, 11.15 - 12.45 hrs CS03 Thermo Fisher Scientific...... Ballerup...... 46 CS04 Agilent Technologies...... Brussels...... 47 CS05 QIAGEN...... Berlin...... 47 CS06 NIPD Genetics...... Birmingham...... 47 CS07 Face2Gene...... Belgrade...... 48

Sunday, May 28, 2017, 15.00 - 16.30 hrs

CS08 Roche Sequencing Solutions...... Ballerup...... 48 SUNDAY CS09 Sophia Genetics...... Brussels...... 48 CS10 Bluebee & Lexogen...... Berlin...... 48 CS11 Integrated DNA Technologies...... Birmingham...... 49 CS12 Multiplicom...... Belgrade...... 49

Sunday, May 28, 2017, 19.15 - 20.45 hrs CS13 Illumina...... Ballerup...... 49 CS14 Congenica...... Birmingham...... 50 CS15 Repositive...... Belgrade...... 50 MONDAY

Monday, May 29, 2017, 11.15 - 12.45 hrs CS16 Agilent Technologies...... Ballerup...... 50 CS17 Centogene...... Brussels...... 51 CS18 Asuragen...... Berlin...... 51 CS19 Sistemas Genómicos...... Birmingham...... 51 CS20 Thermo Fisher Scientific...... Belgrade...... 52

Monday, May 29, 2017, 15.00 - 16.30 hrs TUESDAY CS21 NanoString Technologies...... Brussels...... 52 CS22 10x Genomics...... Berlin...... 52 CS23 Agilent Technologies...... Birmingham...... 53 CS24 NimaGen...... Belgrade...... 53 CS25 Fabric Genomics...... Barcelona...... 53 SATELLITES AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 45 PROGRAMME CORPORATE SATELLITES Saturday, May 27, 12.15 - 13.45 hrs

CS01 – Canon BioMedical, Saturday, May 27, 2017, 12.15–13.45 hrs, Room Birmingham Stand # 120 GENERAL

Tough Targets. Simple Genotyping. — New Solutions for CRISPR, Mitochondrial Disease, Neurology, and Pharmacogenetic Research

Dana Pfister, Product Manager, Canon BioMedical, Rockville, USA

Do you have targets that are difficult to genotype? Are you starting new projects and looking for a fast convenient genotyping solution?

Whether screening CRISPR clones, exploring pharmacogenetic interactions, detecting mitochondrial disease targets, or distinguishing genotypes for neurological disorders, PCR followed by high-resolution melting (HRM) is a fast, reliable, and inexpensive genotyping method to get the answers you need for your experiments. SATURDAY Canon BioMedical has developed a library of common and unique targets for identifying single nucleotide polymorphisms (SNPs), indels, and large deletions. Unlike most other genotyping techniques, HRM analysis can genotype a single sample in an hour. The Novallele™ assays can be run on any HRM-capable thermocycler.

Attend our session to learn how the Novallele assays can help you with your research.

Novallele assays are for Research Use Only. Not for use in diagnostic procedures. SUNDAY CS02 – BD Life Sciences, Saturday, May 27, 2017, 12.15–13.45 hrs, Room Belgrade Stand # 640

Chair: Richard Henfrey, Dr, BD Genomics, Oxford, UK

Bringing Innovative Technologies Together: An Integrated Workflow for Single Cell Analysis Uncovering Hidden Events in a Solid Tumour

Part I: Wieland Keilholz, Dr, BD Genomics, Heidelberg, Germany

MONDAY BD Genomics offers a suite of products that enable broad biological research through a fully integrated workflow. Tissue dissociation combined with FACS analysis based on complex surface marker panels is capable of detecting cellular heterogeneity within a tissue sample. Furthermore, in conjunction with FACS sorting technology and RNA-Seq on the sorted cells, the picture is sharpened by linking proteomic and transcriptomic data. A case study on PDX tumour samples will be presented.

Part II: Claire Gibney, Dr, BD Genomics, Oxford, UK

An overview of BD Genomics technologies will be presented, including FACS sorting of single cells into plates using the BD FACSMelodyTM, combined with BDTM Precise assays for whole transcriptome/targeted gene expression. The BDTM Resolve platform will be introduced, demonstrating single- TM

TUESDAY cell gene expression analysis for hundreds/tens of thousands of single cells. Finally, the latest advances using the BD CLiC automated library preparation instrument for targeted and whole genome sequencing will be covered.

Sunday, May 28, 11.15 - 12.45 hrs

CS03 – Thermo Fisher Scientific, Sunday, May 28, 2017, 11.15–12.45 hrs, Room Ballerup Stand # 438

New products to enable the discovery of de novo and germline mutations SATELLITES Announcing four new products that will advance our understanding of human genetics and disease.

Sanger Sequencing in Molecular Pathology and Genetics Dr Luca Quagliata, Basel University Hospital, Switzerland

Targeted Next Generation Sequencing in inherited disease research: example from Noonan syndrome Adam Ameur PhD, Uppsala University, Sweden

Application to rare diseases AWARDS Morten Dunø PhD, Rigshospitalet, Copenhagen, Denmark

Advanced carrier screening research: pan-ethnic high throughput mutation and genomic variation detection Doron Behar MD PhD, Gene by Gene and Igentify, Haifa, Israel

Implementation of BRCA Oncomine panel for germline and somatic variant analysis Enrico Tagliafico MD, PhD, Center for Genome Research , Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Italy

Lunch will be served. Find out more at thermofisher.com/eshg17. Visit booth #438. INFORMATION

46 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME CORPORATE SATELLITES GENERAL Sunday, May 28, 11.15 - 12.45 hrs

CS04 – Agilent Technologies, Sunday, May 28, 2017, 11.15–12.45 hrs, Room Brussels Stand # 632

Alissa: The next evolution of Cartagenia applications & how the Netherlands is leading the way

Dr. Maartje Vogel, Clinical Laboratory Geneticist, Department of Pathology, The Netherlands Cancer Institute, Amsterdam, NL Development of Molecular diagnostic techniques at the Netherlands Cancer Institute SATURDAY

We will discuss how we are investigating the use of Next Generation Sequencing for diagnostic use at the Netherlands Cancer Institute. We will describe how we are carrying out test validation, workflow automation, report standardization and data integration for clinical decision making and translational research.

Dr. Kristin Abbott, PhD, Molecular Geneticist, NGS analysis pipeline coordinator, Department of Genetics, University Medical Center, Groningen, NL Data sharing- How to make the most of your data through collaborations

Most will agree that data-sharing is essential to a successful diagnostic service. The question is how to implement such an initiative. In the Netherlands we have created a national (VKGL) working group to coordinate, with the help of Cartagenia, a concerted data-sharing effort. Here, I will SUNDAY show how the Dutch data-sharing initiative works within Cartagenia, and how the shared data can be used to improve overall NGS analysis.

CS05 – QIAGEN, Sunday, May 28, 2017, 11.15–12.45 hrs, Room Berlin Stand # 540 & 542

Transforming your biological samples into actionable insights MONDAY Using seamlessly integrated preanalytical, next-generation sequencing and bioinformatics solutions, and leveraging expertise in translational and clinical research to refine our understanding of human genetics and diseases.

Chairs: Anja Wild and Phoebe Loh, QIAGEN, Hilden, Germany

11.15–11:20 Welcome

11:20–11:50 Molecular analysis of thyroid nodules – detection of gene mutations and fusion genes by DNA/RNA sequencing Dr. Egbert Schulze, Molecular Genetics Laboratory, Heidelberg, Germany TUESDAY 11:50–12:15 Circulating Cell Free DNA Pre-Analytics: Importance of ccfDNA Stabilization and Extraction for Liquid Biopsy Applications Dr. Dominic O’Neil, QIAGEN, Hilden, Germany

12:15–12:45 Integrative approach to biomarker discovery by performing comparative analysis of two cancers, using genetics and transcriptomics from RNA sequencing data Jean-Noel Billaud, QIAGEN Bioinformatics, Redwood City, USA

12:40–12:45 Closing SATELLITES

CS06 – NIPD Genetics, Sunday, May 28, 2017, 11.15–12.45 hrs, Room Birmingham Stand # 426

New avenues in non-invasive prenatal testing

NIPD Genetics has developed a novel targeted non-invasive prenatal test (NIPT) that allows the non-invasive detection of numerous genetic syndromes and single gene diseases by analyzing fetal DNA in maternal circulation with unparalleled accuracy. This technology is currently marketed as the VERACITY new generation non-invasive prenatal test. AWARDS Our novel NIPT methodology captures and counts cfDNA fragments from selected genomic regions at very high read-depths using targeted capture enrichment technology and proprietary analytical methods and bioinformatics. VERACITY considers the complexities of the human genome, and is designed to avoid problematic genomic regions that reduce test sensitivity and specificity. VERACITY has demonstrated the ability to detect fetal aneuploidies, deletions/duplications and point mutations with unparalleled accuracy.

Speakers: Prof. Philippos Patsalis, Distinguished Professor, The Cyprus Institute of Neurology and Genetics, Founder and CEO, NIPD Genetics, Nicosia, Cyprus

Dr. George Koumbaris, Chief Scientific Officer, NIPD Genetics, Nicosia, Cyprus INFORMATION Dr. Jurate Kasnauskiene, Associate Professor, Vilnius University, Vilnius, Lithuania

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 47 PROGRAMME CORPORATE SATELLITES Sunday, May 28, 11.15 - 12.45 hrs

CS07 – Face2Gene, Sunday, May 28, 2017, 11.15–12.45 hrs, Room Belgrade Stand # 366 GENERAL

Face2Gene Research: Accelerating Clinical Genomic Discoveries

Facial Analysis & Phenotyping Technology Lead to Rare Disease Discoveries

Speakers: Prof. Peter Krawitz, Institut für Medizinische Genetik und Humangenetik – Charité, Berlin, Germany Nicole Fleischer, Director of Research Collaboration, FDNA, Boston, United States

SATURDAY Sunday, May 28, 15.00 - 16.30 hrs

CS08 – Roche Sequencing Solutions – Sunday, May 28, 2017, 15.00–16.30 hrs, Room Ballerup Stand # 430

Real world experience with cell-free DNA testing - clinical and laboratory perspectives on Non-invasive prenatal testing (NIPT)

Join us to hear top experts in cell-free DNA testing present the latest data and describe real world experience with NIPT in their laboratory. During this 90 minute symposium, you will see an updated meta-analysis of clinical data for aneuploidy screening using cell-free DNA testing, learn about

SUNDAY different technological approaches to NIPT, and hear about a laboratory’s experience in acquiring and implementing a microarray based cell-free DNA technology.

Chair: Maximilian Schmid, MD, Roche Sequencing Solutions, San Jose, USA

Speakers: Maria Del Mar Gil, MD, PhD, Hospital Universitario de Torrejón, Madrid, Spain Cell-free DNA screening for fetal aneuploidy in clinical practice - results of an updated meta-analysis

Junaid Shabbeer, PhD, FACMG, Roche Sequencing Solutions, San Jose, USA Non-invasive prenatal testing (NIPT) with different cell-free DNA testing technologies MONDAY Francesca Grati, PhD, ErCLG, Toma Advanced Biomedical Assays S.p.A., Busto Arsizio, Italy Experiences with the laboratory implementation of cell-free DNA testing

CS09 – Sophia Genetics, Sunday, May 28, 2017, 15.00–16.30 hrs, Room Brussels Stand # 620

Dr. Zhenyu Xu, Chief Technology Officer, Sophia Genetics, Switzerland

NGS-based Diagnostics: Challenges in Germline and Somatic Variants Identification TUESDAY Reliable variants identification using Next-Generation Sequencing (NGS) is challenging and complex in routine genetic diagnostics. Sufficient coverage of target region is a well-known prerequisite of accurate variant detection. However, there are other issues to overcome for ensuring correct variant identification. For example, variants exposed to the end of reads, proper trimming of the primer sequences, special care of repetitive regions, etc. In oncology, we need also to consider the quality of the FFPE samples, the limited starting material and the mixture of somatic and germline cells, that complicate even further the variant detection. Here I introduce the efforts that we made to tackle those different problems, which can influence the performance of different gene enrichment assay used in oncology. The experimental design principles and the general power of limit detection for a somatic NGS assay will be discussed. Moreover, I will present the analytical performance of two capture-based library preparation kits, covering the most common mutated genes involved in Myeloid and Hereditary Cancers. Examples of the routine usage of these tests in a clinical setting will be also provided. SATELLITES

CS10 – Bluebee & Lexogen, Sunday, May 28, 2017, 15.00–16.30 hrs, Room Berlin Stands # 330 & 460

Complete and cost-efficient solution for differential gene expression analysis with RNA-Seq: from library prep to automated data analysis results

QuantSeq 3’ mRNA-Seq has already been recognized as one of the fastest, most cost-efficient, and accurate methods for gene expression profiling

AWARDS using next generation sequencing. The data analysis is based on counting of the transcripts, which is straightforward and fast in comparison to standard RNA-Seq.

The QuantSeq data analysis pipeline has been automated and is available on the highly secure cloud-based Bluebee genomics analysis platform free of charge for any QuantSeq customer. Data evaluation - quality control, mapping, and gene read counting - can be performed by any user, also those without experience in bioinformatics. A differential gene expression analysis workflow has been implemented, adding a valuable tool to complete the analysis pipeline, which is accurate, fast, affordable, and bioinformatically not challenging.

In this talk, QuantSeq and the Bluebee platform will be introduced and the end-to-end solution will be showcased. The user will share experience with the pipeline: costs, time savings, and scientific conclusions based on accurate data analysis will be discussed.

Chairs and speakers: Markus Dueringer, Director of Sales, Bluebee, Rijswijk, the Netherlands INFORMATION Birgit Steinmetz, Product Manager, Lexogen, Vienna, Austria

48 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME CORPORATE SATELLITES GENERAL Sunday, May 28, 15.00 - 16.30 hrs

CS11 – Integrated DNA Technologies, Sunday, May 28, 2017, 15.00–16.30 hrs, Room Birmingham Stand # 184

High performance NGS target enrichment and CRISPR genome editing solutions

The world leader in custom nucleic acid synthesis, Integrated DNA Technologies (IDT) offers a growing portfolio of genomics products for use in research and clinical applications. At this workshop, we will share our latest developments in next-generation sequencing target enrichment and SATURDAY CRISPR genome editing.

One presentation, High performance NGS solutions for research and the clinic, provides insight into how xGen® Exome, predesigned panels, gene capture probes, and innovative universal blockers and adapters have made targeted sequencing truly efficient and informative. We’ll present independent studies comparing multiple commercially available systems for various applications and disease areas.

Another presentation, Precision genome editing using Cas9 and Cpf1 ribonucleoprotein (RNP) complexes, demonstrates that CRISPR nucleases plus guide RNAs are the preferred tools for genome editing due to their simplicity and efficiency. Learn how IDT scientists optimized CRISPR RNAs by testing different lengths and modifications, increasing overall genome editing potency. SUNDAY This workshop will be hosted by IDT’s Chief Scientific Officer, Mark Behlke (US), MD, PhD, with presentations from Dr. Behlke himself, Mirna Jarosz (US), PhD, Director of NGS Scientific Applications at IDT, and Andrea Gärtner (Switzerland), PhD, Application Scientist from Sophia Genetics.

CS12 – Multiplicom, Sunday, May 28, 2017, 15.00–16.30 hrs, Room Belgrade Stand # 662

Making the difference in genetic diagnostics: Multiplicom solutions MONDAY Multiplicom, part of Agilent Technologies, provides your lab with a broad range of Next-Generation Sequencing solutions, which guide you towards the most reliable results. During our Symposium we will be talking about how we make a difference in genetic diagnostics. One of our key speakers is Orlando Diez from Vall D’Hebron University Hospital. He will explain the diverse spectrum of causal mutations in hereditary cancer families and show some remarkable results. Furthermore, Katrien De Mulder from the Sint-Lucas will elaborate on how their lab has implemented NIPT via the Clarigo solutions in their workflow. Last but not least we will be talking about how our new Reporter software ensures the correct analysis and enables quality control from sample to results. Come to our booth no. 662 for a demonstration of our new software and discover how we guide your lab towards better results. Every step of the way.

Topics: • BRCA MASTR Dx and MASTR Reporter: a tester experience TUESDAY Loubna Nachate, Technicienne laboratoire biologie moleculaire, Institut Jean-Godinot, Reims, France • Diverse spectrum of causal mutations in hereditary cancer families Dr. Orland Diez – Val d’Hebron, Institute of Oncology, Barcelona, Spain • Clarigo: a decentralized NIPT solution Dr. Katrien De Mulder – General hospital Sint-Lucas, Ghent, Belgium

Sunday, May 28, 19.15 - 20.45 hrs SATELLITES

CS13 – Illumina, Sunday, May 28, 2017, 19.15–20.45 hrs, Room Ballerup Stand # 140 There’s nothing more personal than genomics

• Implementing whole-genome sequencing in clinical routine for diagnostics of rare inherited diseases Valtteri Wirta, Ph.D, Head of Clinical Genomics Facility at Science for Life Laboratory, Stockholm, Sweden

• The Human Functional Genomics Project: towards understanding human immune function Prof. Cisca Wijmenga, Professor of Human Genetics at the Department of Genetics, University Medical Center Groningen, the Netherlands AWARDS

Complimentary wine and cheese will be served. INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 49 PROGRAMME CORPORATE SATELLITES Sunday, May 28, 19.15 - 20.45 hrs

CS14 – Congenica, Sunday, May 28, 2017, 19.15–20.45 hrs, Room Birmingham Stand # 434 GENERAL

Analysing Genetic Inherited Disorders: Lessons from Leading Women’s and Children’s Hospitals

In this Corporate Satellite Seminar, you will hear about the practical advances in genome and exome interpretation from Birmingham Women’s and Children’s Hospital and Great Ormond Street Hospital, London; two international centres of excellence in healthcare.

Sapientia is a clinical genome analysis and interpretation platform used to diagnose rare inherited diseases. It is used to support diagnosis at major Children’s Hospitals as well as large-scale national studies such as the UK 100K Genomes Project.

SATURDAY What you will learn: • Lessons learnt when using Sapientia to analyse prenatal clinical genomes and exomes • Practical examples from Great Ormond Street Hospital London and Birmingham Women’s and Children’s Hospital • Sapientia case study: providing clinical interpretation services for the UK 100K Genomes Project

Speakers include: • Dr Dominic McMullan, Consultant Clinical Scientist, WMRGL Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK • Natalie Chandler, Senior Clinical Scientist, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK • Laura Reed, Pre-Registered Clinical Scientist, Congenica, Cambridge, UK

SUNDAY Laura is a lead scientist working on the UK 100K Genomes Project where she produces Rare Disease Interpretation Reports. • Gavin Stone, VP Marketing at Edico Genome, La Jolla, USA Gavin designed DRAGENTM Bio-IT Processor, the world’s first next-generation sequencing bioinformatics chip.

CS15– Repositive, Sunday, May 28, 2017, 19.15–20.45 hrs, Room Belgrade Stand # 732

Find the most suitable genomic data repository for your needs

Manuel Corpas, Scientific Lead at Repositive, Cambridge, United Kingdom MONDAY Researchers rely on acquiring external data to validate, benchmark and supplement research findings. Funders require researchers to make their datasets accessible for further reuse. The goal of this workshop is to make researchers in genetics/genomics aware of the existing challenges with genomic data access and reuse, and to present a number of tools and resources that researchers can use directly for simplifying their data access workflows.

Manuel Corpas, Scientific Lead at Repositive, will run this workshop. Manuel has done pioneering work in exploring his personal genome, through direct to consumer genomic testing and online international collaboration. He crowdfunded the DNA sequencing for both himself and his family, and he was the first to publish the complete collection of genomic data for his family online as Open Access. Manuel was previously Project Leader for plant and animal genomes at TGAC (now Earlham Institute), and his earlier roles included Sanger, EBI (European Bioinformatics Institute) and TUESDAY the Spanish National Bioinformatics Centre. Alongside his role at TGAC/Earlham, Manuel was also the ELIXIR-UK Technical Coordinator and board director of the International Society for Computational Biology (ISCB).

Monday, May 29, 11.15 - 12.45 hrs

CS16 – Agilent Technologies, Monday, May 29, 2017, 11.15–12.45 hrs, Room Ballerup Stand # 632

SATELLITES Exomes and arrays: why they are here to stay!

Dr. Jill Urquhart, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary’s Hospital, UK The UKExome Commercial exome panels often fail to meet the individual requirements of researchers or countries. Here we describe why we pursued a UK specific exome and the possibilities it offers for clinical disease research.

Dr. Maria Lascone, ASST Ospedale Papa Giovanni XXIII Bergamo, Italy Exome Sequencing in routine Clinical research of rare diseases AWARDS NGS set in the last years a new frontier in molecular characterization of rare diseases. Exome sequencing coupled with efficient and modern tools for data analysis and interpretation represents today the ideal link between clinical cases reports.

Dr. Gaelle Pierron, Coordinator of the Somatic Genetics Unit, Marie Curie Institute, Paris, France Dr. Gaelle Pierron will describe her work with Agilent’s comparative genomics hybridization (CGH)s arrays. INFORMATION

50 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME CORPORATE SATELLITES GENERAL Monday, May 29, 11.15 - 12.45 hrs

CS17 – Centogene, Monday, May 29, 2017, 11.15–12.45 hrs, Room Brussels Stand # 220

Start the proper interpretation of your genetic data - now!

The importance of unbiased genetic and clinical data compilations Prof. Arndt Rolfs, CEO, CENTOGENE AG, Rostock, Germany SATURDAY

Detailed phenotyping in neurogenetic diseases as a key for NGS data interpretation in diagnostics Prof. Katja Lohmann, University of Lübeck, Lübeck, Germany

Diagnostics need highly qualified mutation databases - what about CentoMD® Dr. Gabriela Oprea, Director Digital Data Products, CENTOGENE AG, Rostock, Germany

Next generation interpretation of big data Prof. Peter Bauer, COO, Centogene AG, Germany SUNDAY About CENTOGENE As one of the most diversified and largest genetic testing companies worldwide we are dedicated to transforming the science of genetic information into solutions and hope for patients and their families. CENTOGENE’s goal is the rapid medical diagnosis of inherited diseases, provided at the earliest possible moment as we turn analytical information into actionable results for physicians, patients and pharmaceutical partners. Our commitment to the global medical community is an early and precise diagnosis for continuous improvement of therapeutic options for each individual patient.

CS18 – Asuragen, Monday, May 29, 2017, 11.15–12.45 hrs, Room Berlin Stand # 228 MONDAY

Fragile X Screening: Two Perspectives

Although accurate and high-throughput fragile X carrier screening tests are available, they are under-utilized by the general public due to lack of awareness. As a mother of a child who has fragile X syndrome, Ilana Garber will share her insights of why she believes women should have the opportunity to have carrier screening performed, even if there is ‘no family history.’ The workshop will also discuss responsible clinical implementation of carrier screening across populations: the risks, benefits, and limitations.

Presented by: Ilana Garber, West Hartford, CT, USA TUESDAY

CS19 – Sistemas Genómicos – Monday, May 29, 2017, 11.15–12.45 hrs, Room Birmingham Stand # 370

New diagnostic tools: From embryo to adult

Chairman: Javier Benitez PhD, Head Human Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain SATELLITES New advances in genomics enable the study of the genetic bases of many diseases or the individualized response to specific treatments. This analysis currently starts along the embryo stage and continues up to adult life.

In this session we will have the opportunity to learn from three scientists who work in three important biomedical areas. a) Human embryos trying to improve the detection of aneuploidies in single blastomeres. b) New exome developments that permit simplifying the diagnostic processes. c) Different approaches in pharmacogenetics and pharmacogenomics in order to speed the results and cover different options and situations in the clinical practice.

Talk 1: Whole genome sequencing in single human embryo cells for aneuploidy detection AWARDS Xavier Vendrell Montón, PhD, Head of the Reproductive Genetics Unit at Sistemas Genómicos, Valencia, Spain

Talk 2: Exome screening for genetic diseases Juan Carlos Triviño, PhD, Head of bioinformatics department of Sistemas Genómicos, Valencia, Spain

Talk 3: Looking for the correct technology in precision medicine Diana Valero Hervás, PhD, Pharmacist specialized in Immunology at Sistemas Genómicos Laboratory of Molecular Diagnostics, Valencia, Spain INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 51 PROGRAMME CORPORATE SATELLITES Monday, May 29, 11.15 - 12.45 hrs

CS20 – Thermo Fisher Scientific, Monday, May 29, 2017, 11.15–12.45 hrs, Room Belgrade Stand # 438 GENERAL

From discovery to understanding: new CRISPR technologies that enable your functional genetic research

This session will inform genetics researchers involved in gene target identification and functional analysis studies on the state of the art of screening technologies.

Join us during lunch to hear about new product announcements that will advance our understanding of human genetics and disease.

Discovery: automated high throughput solutions for DNA and RNA isolation for demanding applications We present new solutions for maximising genomic analysis through sequential recovery of DNA and RNA from the same FFPE samples including SATURDAY genetic testing of tumour-derived cell-free DNA with a high-throughput processing platform.

Validation: using Sanger sequencing to facilitate genome editing workflows We demonstrate the use of Sanger sequencing to: determine the efficiency of genome editing in transformed cultures, confirm successful edits in transformed cultures, including screening secondary clones for successful editing and determine the frequency of SNP changes in clones isolated from secondary cultures.

Understanding: New CRISPR libraries and new capabilities with award-winning solutions Hear about how the new awarding winning Invitrogen™ LentiArray CRISPR Libraries expand the application of CRISPR-Cas9 technology into high SUNDAY throughput applications for functional genomics screening.

Lunch will be served.

Monday, May 29, 15.00 - 16.30 hrs

CS21– NanoString Technologies, Monday, May 29, 2017, 15.00–16.30 hrs, Room Brussels Stand # 372 MONDAY More insights for less sample with 3D BiologyTM Technology: Multiplex, multi-analyte digital detection of mRNA, DNA, Fusion Genes, and Proteins

Digital Spatial Profiling of FFPE tissue using 3D Biology™ Technology Niroshan Ramachandran, Ph.D., Senior Director Product Management, NanoString Technologies, Seattle, USA

Simultaneous detection of Single Nucleotide Variants and Gene Fusions from a single NSCLC patient sample Dr. Noemi Reguart, Hospital Clinic Barcelona, Spain

TM TUESDAY Immune Profiling of Solid Tumors using NanoString’s new efficient high throughput PlexSet Reagents Dr. Maggie Cheang, The Institute of Cancer Research, Clinical Trials and Statistics Unit, Belmont, Surrey, UK

Multiplexed gene fusion detection in non-small cell lung cancer using NanoString technology Prof. Johan Staaf, Oncology and Pathology, Lund University, Sweden

Coffee and cakes will be provided. Visit us at booth 372 to discover how NanoString can accelerate your research. http://www.nanostring.com/eshg2017.

SATELLITES CS22 – 10x Genomics, Monday, May 29, 2017, 15.00–16.30 hrs, Room Berlin Stand # 176

Your Sequencer - Our Solutions - Powerful Discovery

10x Genomics meets the critical need for long range, structural and cellular information, with an innovative system that transforms short-read sequencing technologies. Our Chromium™System supports comprehensive genomics and high-throughput single cell transcriptomics. It enables researchers to discover previously inaccessible genomic information at unprecedented scale, including phased structural variants, phased single nucleotide variants, and dynamic gene expression of individual cells—while leveraging their existing sequencing systems and workflows.

AWARDS So join our Corporate Satellite to learn more about our technology, from sample preparation through to downstream analysis, and discover how 10x Genomics can help to power your discoveries.

The Chromium System: Technology & Applications Jill Herschleb, Staff Scientist, 10x Genomics, Pleasanton, USA

Closing the Loop: Informatic Solutions Paul Ryvkin, Senior Scientist, 10x Genomics, Pleasanton, USA

Identifying the downstream consequences of genetic risk factors through single-cell eQTL analysis Prof. Dr. Lude Franke, Department of Genetics, University Medical Centre Groningen, the Netherlands INFORMATION

52 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME CORPORATE SATELLITES GENERAL Monday, May 29, 15.00 - 16.30 hrs

CS23 – Agilent Technologies, Monday, May 29, 2017, 15.00–16.30 hrs, Room Birmingham Stand # 632

Gene Editing - New Frontiers, new discoveries, new possibilities

Dr. Michael Bassik, Ph.D, Assistant Professor, Department of Genetics, Stanford University, USA Parallel shRNA and CRISPR/Cas9 Screens Reveal Biology of Stress Pathways and Identify Novel Drug Targets SATURDAY

Dr. Ana Banito, Research fellow at the Scott Lowe Laboratory, Cancer Biology & Genetics Program, Memorial Sloan-Kettering Cancer Center (MSKCC), New York, USA Defining epigenetic dependencies in synovial

Synovial sarcomas, driven by a key oncogenic event in unidentified progenitor cells, reveal how global epigenetic changes underlie oncogenic programs; however, the targets of SS18-SSX and the mechanism of its recruitment to chromatin are still unknown. By performing an shRNA depletion screen, we identify an epigenetic dependencies and a new target for synovial sarcoma treatment. We outline how our research approaches could serve as a blueprint for studying dependencies of numerous translocation-driven tumors with yet unknown targets, and unclear molecular function. SUNDAY

CS24 – NimaGen, Monday, May 29, 2017, 15.00–16.30 hrs, Room Belgrade Stand # 584

NGS Sequencing using smMIP captures: Status Quo 2017

Chair and introduction: Joop Theelen, B.Sc., NimaGen, Nijmegen, the Netherlands MONDAY 15:00 Accurate and fast targeted re-sequencing by MIPs - research applications Alexander Hoischen, PhD, Radboudumc, Nijmegen, the Netherlands An overview how MIPs evolved, have been used for candidate gene sequencing and novel applications based on smMIPs for low level mosaic mutations.

15:20 smMIP sequencing in a diagnostic setting: BRCA as a model Arjen Mensenkamp, PhD, Radboudumc, Nijmegen, the Netherlands Implementation of smMIPs, from a research tool to a diagnostic setting, with BRCA genes as a model.

15:40 SeqNext - customised solutions for smMIP sequencing analysis TUESDAY Peter Kirchmeier, PhD, JSI medical systems, Ettenheim, Germany Analysis of smMIP generated data with SeqNext to detect FFPE artefacts, CNVs and somatic mutations. Subsequent variant interpretation with varSEAK, the new variant database for Shared Experience And Knowledge.

16:10 EasySeq NGS Targeted Resequencing kits: smMIP based sequencing of BRCA genes and Oncology Hotspots Joop Theelen B.Sc., NimaGen, Nijmegen, the Netherlands NimaGen launched a range of smMIP based NGS target enrichment kits, with a number of unique features, consisting of only 5 steps with an extremely low hands-on time. SATELLITES

CS25 – Fabric Genomics, Monday, May 29, 2017, 15.00–16.30 hrs, Room Barcelona Stand # 286

Accurate and Rapid Clinical Whole-Genome Sequence interpretation with Fabric Genomics’ clinical platform

Speaker: Vanisha Mistry, Ph.D., Fabric Genomics, London, UK

For every clinical lab that wants to develop a comprehensive, high-throughput genomic testing program, Fabric Genomics enables you to deliver

the highest quality clinical interpretation of patient genetic information at scale. Clinical NGS testing is expanding from panels to exomes to whole AWARDS genomes.

We will discuss the key interpretation and reporting capabilities needed to launch and scale clinical NGS testing, including the need for advanced computational algorithms to maximize diagnostic yield. We will highlight examples of genomic testing transforming medical care, such as the 100,000 Genomes Project and Rady Children’s Institute for Genomic Medicine, which has a goal of rapid genome analysis with a 24 hour turnaround time from blood sample to result. Rady uses Fabric Genomics STAT, which delivers comprehensive annotations on whole genome data in less than an hour. INFORMATION Fabric Genomics is setting the standard for how health systems are using whole genomes to increase diagnosis rates and save lives.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 53 PROGRAMME BUSINESS AND ANCILLARY MEETINGS

As per date of printing.

Friday, May 26, 2017 GENERAL 09.00 – 13.00 hrs ESHG Executive Board Meeting...... Room 20...... closed 13.30 – 18.00 hrs ESHG Board Meeting I...... Room 20...... closed

Saturday, May 27, 2017 08.00 – 09.00 hrs UEMS and EBMG Clinical Genetics Boards Meeting...... Room 18+19...... closed 09.00 – 11.00 hrs UEMS Section Meeting...... Room 18+19...... closed 09.00 – 13.00 hrs HSCR Consortium Meeting II...... Room 17...... closed SATURDAY 09.00 – 13.30 hrs ESHG Quality Subcommittee Meeting...... Room 16...... closed 10.45 – 13.30 hrs ESHG PPPC Meeting...... Room 20...... closed 12.15 – 13.45 hrs ESHG-SpringerNature Meeting...... Room 18+19...... closed 13.30 – 20.00 hrs GENTURIS Meeting (Part I)...... Room 17...... closed

Sunday, May 28, 2017

SUNDAY 08.00 – 10.45 hrs COST Action CHIP ME WG1 (Part I)...... Room 16...... closed 10.00 – 12.00 hrs European Genetic Nurses and Counsellors (GNGC) Meeting...... Room 20...... open to GNGC 11.00 – 12.30 hrs EBMG Clinical Laboratory Geneticists (CLG) Meeting...... Room 17...... open to CLGs 11.00 – 13.00 hrs National Human Genetics Societies Meeting...... Room 18+19...... closed 11.15 – 12.45 hrs GenIDA Advisory Board Meeting...... Room 16...... closed 12.15 – 13.15 hrs EBMG GNGC Board Meeting...... Room 20...... closed 13.00 – 20.00 hrs GENTURIS Meeting (Part II)...... Room 17...... closed 14.30 – 16.00 hrs eRare EuroMicro Consortium Meeting...... Room 16...... closed 16.30 – 18.00 hrs Building Bridges ESHG/ASHG Meeting...... Room 16...... closed

MONDAY 16.30 – 18.00 hrs ERN-ITHACA Members Meeting...... Room 18+19...... open to members 16.30 – 20.00 hrs COST Action CHIP ME WG1 (Part II)...... Room 20...... closed 19.15 – 20.15 hrs ESHG Membership Meeting...... Alicante...... open to members

Monday, May 29, 2017 08.15 – 11.15 hrs COST Action CHIP ME WG1 (Part III)...... Room 20...... closed 08.30 – 10.30 hrs ESHG Education Committee Meeting...... Room 18+19...... closed

TUESDAY 10.00 – 11.00 hrs EJHG Editorial Board Meeting...... Room 16...... closed 10.00 – 12.00 hrs European Board of Medical Genetics General Assembly...... Room 17...... closed 11.00 – 13.00 hrs CEQAS, EMON and UK NEQAS for Molecular Genetics...... Room 18+19...... closed 11.45 – 12.45 hrs ESHG Board Meeting II...... Room 20...... closed 12.30 – 14.00 hrs JOCG Editorial Board Meeting...... Room 17...... closed 13.15 – 14.45 hrs Clinical Genetics Editorial Board Meeting...... Room 18+19...... closed 13.15 – 15.00 hrs FP7 I1 consortium BBMRI-LPC – Steering Group Meeting...... Room 20...... closed 14.30 – 16.00 hrs European Journal of Medical Genetics (EJMG) Board Meeting...... Room 16...... closed 15.00 – 16.30 hrs IFHGS Executive Board Meeting...... Room 18+19...... closed 16.30 – 18.00 hrs ERN-ITHACA Board Meeting...... Room 20...... closed SATELLITES

Tuesday, May 30, 2017 08.30 – 11.30 hrs GG2020 – Part I...... Room 20...... closed 09.00 – 12.00 hrs ESHG Quality Sub-Committee – EQA Providers...... Room 17...... closed 12.15 – 13.15 hrs ESHG SPC Meeting...... Room 20...... closed 12.30 – 16.00 hrs GG2020 – Part II...... Room 17...... closed AWARDS

Disclaimer Ancillary and satellite meetings shall not state or imply endorsement of or support by the ESHG of the event, organiser, products or services presented in any verbal statements or printed/electronic media before, after and during the presentations. INFORMATION

54 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME ESHG AWARD & MENDEL LECTURES GENERAL ESHG Award

The ESHG Award, formerly “Mauro Baschirotto Award”, was founded in 1992 and is presented by the European Society of Human Genetics during its annual European Human Genetics Conference in recognition of individual achievement in human genetics.

The ESHG Award Lecture is held by Edith Heard on Tuesday, May 30, 2017 at 14.15 hrs in Hall Aarhus. An interview can be found on the next page. SATURDAY

Award Holders

2017 Edith Heard 2008 Arnold Munnich 1999 Pat Jacobs 2016 Stefan Mundlos 2007 Andrea Ballabio 1998 Jean-Louis Mandel 2015 Svante Pääbo 2006 Veronica van Heyningen 1997 Leena Peltonen 2014 Sir Michael Stratton 2005 Stylianos Antonarakis 1996 Malcolm Ferguson-Smith 2013 Felix Mitelman 2004 Bernhard Horsthemke 1995 Jean Weissenbach 2012 Peter Lichter 2003 Sir Peter S. Harper 1994 Mary Lyon SUNDAY 2011 GertJan B. van Ommen 2002 Albert de la Chapelle 1993 Pierre Maroteaux 2010 Sir Alec Jeffreys 2001 Robin Winter 1992 Lore Zech 2009 Kari Stefansson 2000 Dirk Bootsma

Mendel Lecturers MONDAY

Since 2006 the European Human Genetics Conference closes with the lecture of a distinguished speaker. In 2009 this lecture was officially named “Mendel Lecture”.

The Mendel Lecture is held by George Church on Tuesday, May 30, 2017 at 13.30 hrs in Hall Aarhus.

Mendel Lecturers TUESDAY

2017 George Church 2013 Huda Zoghbi 2009 Sir John Burn 2016 Sir Adrian Bird 2012 Evan Eichler 2008 Leroy Hood 2015 Thomas Südhof 2011 Elizabeth H. Blackburn 2007 Aaron J. Ciechanover 2014 Mario Capecchi 2010 Mary Claire King 2006 Sydney Brenner SATELLITES

The Mendel Prize was designed by Swedish geneticist Alicia Bergsten AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 55 PROGRAMME ESHG AWARD LECTURER INTERVIEW Edith Heard we stumbled across these sub-megabase scale domains of chromosome interaction. This totally changed our way of thinking about the locus we were interested in, and also GENERAL Edith Heard is the had many repercussions in terms of our understanding of Head of Genetics and chromosome structure and gene regulatory landscapes in Developmental Biology general." Unit, Institut Curie and Professor at the Collège de Like so many others, the current state of science support France. She will be giving worries her. "The perception – and related funding – that the ESHG Award lecture biology must always be related to human health in some on Tuesday, May 30, 2017 way, is disturbing. It seems that, in the last decade or so, curiosity-driven research is much less supported than SATURDAY at 14:15 hrs. She talked to Mary Rice about her life previously – except for the ERC’s grants which are a blessing and work. for European research. Often, however, research has to be focused on improving the human condition, or else applicable commercially in order to attract funding. Things Born into a bilingual will turn around, though – I am sure we will realise (yet Greek/English family, and again) that it is only curiosity-driven research that can lead now working in Paris, Edith Heard says that she learned to to discoveries that will be applicable to human health."

SUNDAY be adaptable at an early age. "I was brought up in central London amidst lots of heated Greek political discussions Even so, Heard feels she is lucky to have ended up as a with members of my mother’s family who were staying with scientist. "I almost became a musician and I used to think us in exile – it was the era of the Greek colonels – while my that I would have liked to be a historian. But working in father was quietly engineering in his garage downstairs". science is a truly fasinating job, and I also enjoy watching the emergence of young scientists and seeing the leaps in "So I would often hide and read a book. This meant that I understanding that are happening in biology." learned to concentrate wherever I was, and also to think about two different topics in two different languages more A downside to this fascination, perhaps, is that she has little MONDAY or less simultaneously," she says. time for other interests. "I like music and art, and I love to read. Although I have no concrete plans for retirement at Heard’s father was an electrical engineer. "For him science present, I don’t want it to be too late. And when it comes I was physics or engineering; he didn’t consider biology to be would definitely like to do more of these things, as well as real science. My mother inspired me to care a lot about how to watch my family evolve, write a book, spend more time things work, and also about people." Her interest in biology in the Mediterranean where I have family roots, and maybe didn’t begin until she was at Cambridge, having previously try to help the world in some way. Like many people, at been more attracted to mathematics. "I realised that I was present I am watching the news and worrying about our TUESDAY fascinated by all the unknowns in biology, and the buzz future…….." that was there in the mid 1980s when molecular biology, genetics and developmental biology were exploding was The subject of Heard’s lecture will be her lab’s work on trying very exciting. I was lucky enough to come across many great to understand one of the most fundamental questions in and inspiring scientists in Cambridge." biology : how do you shut down genes and how do you turn them back on again in a developmental context using As a post doc, she started working in the field of the inactive X chromosome ? "Our work on chromosome X-chromosome inactivation. "I did not realise at the time organisation has led us to some exciting new avenues and how lucky I was to be working on on such a beautiful we are now exploring the process of X inactivation in the SATELLITES biological problem that opened up so many questions and context of chromosome dynamics. Is chromosome folding fields. Working on X inactivation means that one can work into TADs a cause or a consequence of gene activation, on development, gene regulation, chromatin, non-coding and when and how does this happen in a chromosomal RNAs, and chromosome biology. It has meant that my team context?" and I have explored many different disciplines and it keeps us curious and happy !" Answering this key question takes time. Such is her curiousity for further knowledge that it looks as though an Among the discoveries of which Heard is proudest is the

AWARDS early retirement is unlikely to appeal to Edith Heard. insight obtained by looking at early mouse embryos, where the team uncovered the highly dynamic process of X inactivation, with a wave of silencing, followed by reactivation and then silencing again. "This was unexpected, and an unexpected example of in vivo reprogramming."

Another high point was the discovery of topologically associated domains, or TADs, in collaboration with Job Dekker. "Elephege Nora, a PhD student in our lab, used chromosome

INFORMATION conformation capture to explore the X-inaction centre, and

56 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES GENERAL ESHG Young Investigator Awards

The Scientific Programme Committee has shortlisted presenters for the ESHG Young Investigator Awards. The committee will judge finalists’ presentations during the conference.

The following awards will be presented to the winners in the closing ceremony on Tuesday, May 30, 2017 at 15.00 hrs:

• A total of four ESHG Young Investigator Awards are granted for outstanding research by young scientists presented as a spoken SATURDAY contribution at the conference.

• The Isabel Oberlé Award is awarded yearly since 2002 for best presentation by a young scientist on research concerning the genetics of mental retardation.

• The Lodewijk Sandkuijl Award was instituted in 2004 to be awarded to the author of the best presentation at the ESHG conference within the field of complex disease genetics and statistical genetics.

• The Vienna Medical Academy Award (funded by our conference organiser VMA since 2012) will be awarded to the best presentation SUNDAY in translational genetic research/therapy of genetic diseases.

• The Mia Neri Award (established by the Mia Neri Foundation in 2015) will be awarded to the best presentation in childhood cancer research.

All winners will receive prize money in the amount of EUR 500, a complementary ESHG online membership for one year as well as a free particpation in next year's conference.

Talks of YIA finalists are highlighted by an asterisk (*) as well as a grey background in the detailed scientific programme. MONDAY

ESHG Poster Awards

The ESHG proposes the ESHG Poster Awards for the best posters presented by Young Investigators at the meeting. The two winners (one in clinical, the other in basic research) will receive a prize money of EUR 500, a complementary ESHG online membership for one year as well as TUESDAY a free particpation in next year's conference. The five honorable mentions receive a complementary ESHG online membership for one year.

The ESHG Scientific Programme Committee has selected a number of candidates for the ESHG Poster Award based on the score of their submission after peer review. Candidate posters can be identified by a rosette on the board.

Presentation of the Candidates SATELLITES

On the next pages you will find short self-presentations of the candidates for Young Investigator and Poster Awards. AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 57 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Daniel Bader We have asked the candidates to answer the following Munich, Germany questions:

GENERAL Q1: Date and city of birth Talk: C13.3 Genetic diagnosis of Q2: What is your current position? Mendelian disorders via RNA Q3: Why did you choose a career in genetics? sequencing Q4: What is so interesting about the research you are Concurrent Session C13 Innovative Variant presenting at ESHG 2017? Interpretation Date & Time: Monday, May 29, 2017, 13:30 hrs, Aarhus Raul Aguirre-Gamboa Groningen, Netherlands Q1: Wertheim, Germany

SATURDAY Dec 13th 1988 Talk: C22.3 Deconvolution of whole Q2: PhD student blood eQTLs into rare immune- Q3: Genetics, or for me rather bioinformatics focusing on disease subpopulations uncovers key players characterization always kept me fascinated. At the end of my studies of immune mediated diseases I wanted to understand diseases and ultimately help people. With Concurrent Session C22 Systems Genetics this project I found the perfect match. Date & Time: Tuesday, May 30, 2017, 11:30 Q4: We developed a general pipeline to improve genetic diagnosis hrs, Alicante of Mendelian disorders. This project is exemplary for successful

SUNDAY interdisciplinary collaboration between bioinformatics, biochemists Q1: 29/08/1986. Monterrey, México. and clinicians. Q2: PhD student at the Genetics Department, UMC Groningen Q3: High-throughput genomics and the advances of statistical methods to analyze this huge amount of information brought Iris Barny genetics to the spotlight of personalized medicine and drug Paris, France development. Contributing to this rapidly developing field is very rewarding, as it could potentially help improve our healthcare Talk: C11.4 Naturally-occuring exon-skipping allows bypassing system and therefore the quality of life of patients suffering from complete CEP290 loss-of-function in individuals with unusually complex genetic diseases. mild retinal disease MONDAY Q4: Our talk focuses on a computational approach that detects Concurrent Session C11 Sensory disorders cell type specific expression quantitative trait loci (eQTLs) by solely Date & Time: Sunday, May 28, 2017, 13:45 hrs, Alicante using expression from bulk whole blood RNA-seq data. In the context of complex diseases and their genetic risk factors, knowing Q1: February 27, 1992 - Paris, France in which cell type a risk factor is more likely to exert an eQTL effect Q2: I‘m a PhD student at the Laboratory of Genetics in Ophtalmology its a crucial step towards understanding the pathogenesis of these (LGO) in Imagine Institute, Paris, France diseases. Q3: Research in human genetics is both complex and fascinating. Understanding the molecular mechanisms leading to diseases, that are so different on rarity and severity scale, is clearly a challenge to TUESDAY Tatsiana Aneichyk undertake, and for which I want to be part of. For me, the most Boston, United States motivating aspects of this field is the opportunity to make my contribution in treatment of patients affected from such illnesses. Talk: C08.3 Dissecting the causal Q4: Analyzing fibroblasts from two individuals having biallelic mechanism of X-linked dystonia- truncating CEP290 mutations but unexpectedly moderate visual parkinsonism by integrating genome dysfunction, I observed naturally occurring splicing of mutant and transcriptome assembly exons and expression of minimally shortened CEP290 protein. Concurrent Session C08 Neuromuscular This provides strong rational to my PhD project which assesses Disorders antisense oligonucleotides to bypass CEP290 truncation in blind SATELLITES Date & Time: Sunday, May 28, 2017, 13:30 LCA10 infants. hrs, Athens

Q1: 22/03/1985, Minsk, Belarus Miriam Bauwens Q2: Postdoctoral Fellow,Massachusetts General Hospital/ Harvard Ghent, Belgium Medical School Q3: I want to understand how the DNA, being a molecule containing Talk: C11.5 Hidden genetic variation in just four components, can lead to a creation of a human being. Stargardt disease: novel copy number My ability to use my knowledge of statistics, programming and AWARDS variations, cis-regulatory and deep- algorithms to drive new discoveries of the ways the life is built is intronic splice variants of the ABCA4 my main motivator. locus Q4: X-linked dystonia parkinsonism is a Mendelian disorder that Concurrent Session C11 Sensory disorders has been linked to a founder haplotype over 20 years ago, but Date & Time: Sunday, May 28, 2017, 14:00 no progress has been made since then in uncovering pathogenic hrs, Alicante mechanism. With new technologies, we are able to scrutinize this disease and move the research forward while making unexpected Q1: 16-07-1986, Sint-Niklaas discoveries. Q2: PhD student at the Center for Medical Genetics Ghent Q3: During my master studies in biomedical science, I became

INFORMATION fascinated by the complexity of the human genome and intrigued by the link between genetic variation and disease. When I was 58 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES GENERAL given the opportunity to start a PhD in this field, I gladly took it :-) Stefania Benonisdottir Q4: My research focuses on unraveling the importance of non- Reykjavik, Iceland coding mutations in a form of inherited blindness: Stargardt disease. Finding these hidden mutations provides these patients Talk: C18.3 Whole-genome sequencing with a molecular diagnosis, which is a prerequisite for inclusion identifies associations of sequence in the -currently ongoing- gene therapy trials. Also, identifying variants with clinically relevant non-coding mutations enables us to explore new therapeutic urinary disease markers

approaches and will hopefully result in a better future for these SATURDAY Concurrent Session C18 Internal organs patients. Date & Time: Monday, May 29, 2017, 13:30 hrs, Amsterdam Louise Benarroch Q1: 11th January, 1985, Reykjavik. Paris, France Q2: Research Scientist at the Statistic department at deCODE genetics. Talk: C05.5 Cross-mapping analysis identifies 9 modifier loci in Q3: Living in Iceland, a country where genealogy is considered Marfan syndrome a national hobby, the initiation in 1996 of large genetic studies Concurrent Session C05 Skin and Bones

by deCODE put human genetics at a central point of interest for SUNDAY Date & Time: Saturday, May 27, 2017, 19:30 hrs, Amsterdam many of my generation. I got familiarized with genetics during my master studies, applying statistical genetics to animal data in my Q1: 06.06.1989, Montreuil sous bois MSc project to search for pairs of relatives in an Icelandic DNA- Q2: PhD student registry of fin whales. I subsequently shifted my focus to human Q3: I chose genetics because, for me, genetics is a fascinating and genetics and, in 2014, had the unique opportunity to join deCODE. thrilling domain of research. Genetics is in a perpetual evolution There, nationwide phenotypic and genotypic data enable us to and everyday new discoveries are made. Understanding the examine associations underlying almost all observable traits and mechanisms and interactions at this level could allow us to diseases. Thus far I have authored three published manuscripts and elucidate many mysteries of biology. participated in numerous projects on common and rare human MONDAY Q4: Cross-mapping is an innovative strategy based on crossing diseases. This has made me aware of how diverse the field of the results of several studies on different population. Indeed, a genetics can be and I am excited to continue my work. locus identified by using different methods will be considered as a Q4: Our study is based on a data set that consists of urine dipstick potential regulatory locus. This strategy allow us to make the best measurements from a large fraction of the Icelandic population. use of all the data available and also to avoid creating a replication Whole-genome sequencing allows us to test these urinary markers cohort, which is the main limitation when studying rare disease. for association with over 30 million variants, down to very low minor allele frequencies. Examining rare sequence variants is intriguing since they can lead to discoveries of geographic clusters, and the Christian Benner thorough Icelandic genealogical records make it possible to trace TUESDAY Helsinki, Finland their time of creation or introduction into the population. Working with traits based on the chemical analysis of urine is also very Talk: C10.5 Prospects of fine-mapping interesting as it is one of the most widely used clinical tests, and the causal genetic variants using results can be considered as a natural variation in the population summary statistics from genome-wide rather than a binary indication of disease status. By assessing the association studies association of the detected variants with other phenotypes, we Concurrent Session C10 GWAS: Resolving have the ability to uncover genetic links to diseases and shed light Missing Causality on their biology. In addition, this study emphasizes the role of SATELLITES Date & Time: Sunday, May 28, 2017, 14:00 genetic studies in the identification of drug targets. hrs, Cannes

Q1: April 10, 1982 in Leipzig/Germany Rufus Cartwright Q2: PhD student of Matti Pirinen at the University of Helsinki London, United Kingdom Q3: I had to do an internship during undergraduate studies in statistics. I excluded many fields of study and genetics remained. Talk: C18.4 Genome wide association I went for the internship, liked it and sticked with human genetics study identifies two novel loci because its full of great problems that require skills in designing associated with female stress and

and implementing efficient statistical models and algorithms. AWARDS urgency urinary incontinence Q4: Several statistical methods have recently been introduced Concurrent Session C18 Internal organs to fine-map genomic regions using GWAS summary statistics. Date & Time: Monday, May 29, 2017, 13:45 Common to all methods is that they require Linkage Disequilibrium hrs, Amsterdam (LD) information between variants. Since the hope has been that LD information from publicly available reference panels could replace Q1: 27 February 1977, London the original genotype data in fine-mapping analyses, we evaluate Q2: Specialist Trainee, Obstetrics and Gynaecology, Imperial how estimation of LD from reference panels performs compared to College London the original individual-level GWAS data. Come see our presentation INFORMATION Q3: I wanted to pursue the genetic basis of the common pelvic to hear about new software and good practices to more efficiently floor disorders that affect my female patients. exploit summary statistics in fine-mapping analyses. Q4: I found it exciting to apply techniques developed for much more widely researched conditions to something as hidden and as stigmatising as incontinence.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 59 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Annique Claringbould Leigh Demain Groningen, Netherlands Manchester, United Kingdom

GENERAL Talk: C22.5 Trans-eQTL analysis in Talk: C11.2 A homozygous variant in 25,000 individuals reveals clear mitochondrial RNase P subunit PRORP differences between diseases in the is associated with Perrault Syndrome types and number of causally involved characterised by hearing loss and biological pathways primary ovarian insufficiency Concurrent Session C22 Systems Genetics Concurrent Session C11 Sensory disorders Date & Time: Tuesday, May 30, 2017, 12:00 Date & Time: Sunday, May 28, 2017, 13:15 hrs, Alicante hrs, Alicante

SATURDAY Q1: 28-01-1992, ‚s-Hertogenbosch, The Netherlands Q1: 24 September 1986, Bolton. Q2: PhD candidate Q2: PhD student Q3: Studying genetics, in my mind, is the perfect way to connect Q3: I became interested in genetics when I worked at a company understanding of biological mechanisms in (human) disease with developing genetic assays for personalised medicine. I like that it is a potential to translate knowledge to the clinic. The opportunities a fast paced field where the technology and the scope of what can to improve personalised medicine, drug discovery, and drug be achieved is constantly improving. I believe that genetics will be repurposing are seemingly endless, and that makes genetics such a driving force in many future medical advances. an exciting topic to work on. Q4: The genetic syndrome I work on is extremely rare but the

SUNDAY Q4: I am presenting a large eQTL meta-analysis on the effect that separate clinical features of the syndrome are much more common. SNPs have on gene expression. Especially the influence on distal Discoveries linked to this syndrome can make the genetic diagnosis genes is interesting: the effects of disease-associated SNPs often of subsequent patients easier and may inform on the mechanisms converge on genes in one or a few biological pathways that could behind more common genetic diseases. in the future be targeted by specific drugs.

Laura Fachal Sergio Daga Cambridge, United Kingdom Siena, Italy Talk: C10.4 Fine-mapping analysis MONDAY Talk: C13.5 Podocytes differentiated of 158 breast cancer risk loci from from urine renal precursor as a tool OncoArray data for Alport syndrome diagnosis and Concurrent Session C10 GWAS: Resolving for assessing therapeutic strategies Missing Causality based on patient-derived cells Date & Time: Sunday, May 28, 2017, 13:45 Concurrent Session C13 Innovative Variant hrs, Cannes Interpretation Date & Time: Monday, May 29, 2017, 14:00 Q1: 13/06/1980 Lugo, Spain

TUESDAY hrs, Aarhus Q2: Postdoctoral Researcher at Centre for Cancer Genetic Epidemiology, University of Cambridge Q1: 09/04/1992, Copertino (LE) Italy Q3: I became fascinated with genetics while I was studying at high Q2: PhD Student attending second year of XXX cycle of the school. Later, whilst undertaking an MSc in Biotechnology, I had doctorate in Genetics, Oncology and Clinical Medicine (GenOMec) the opportunity to join the Genomic Medicine group in Santiago at University of Siena de Compostela. I love the multidisciplinary nature of the work, Q3: I developed my passion to genetic during my high school, and the opportunities to learn new techniques. I started studying through participation to a seminar to the discover of the DNA. mendelian disorders and transitioned to the genetic epidemiology During my university I got the chance to increase my knowledge of complex disorders. about this complex and extensive science. But thanks to my Q4: More than one hundred breast cancer independent signals SATELLITES internship thesis, I understood what means to work in genetics. have been identified through GWAS, but only one third of these Now fortunately, I can attend PhD school and I can work on a regions have been studied in detail. Evaluating more than 150 project that excites me every day. loci together allows us to identify additional risk signals, as well as Q4: Our project is based on the isolation of urine derived cells in common epigenetic marks, along with transcription factors binding a totally non-invasive way, using the urines and avoiding every sites enriched at those loci. This aids us in elucidating the hidden type of invasive procedure such as kidney biopsy. In particular for genetic causes of breast cancer and piece together the complex the first time, we have demonstrated that it is possible to isolate and interactive genetic mechanisms underlying these risks. renal precursors from urine of Alport syndrome patients and healthy

AWARDS carriers. The isolation of cells very close to the GBM (glomerular basal membrane) structure and which express peculiarly the collagen IV genes, give us the chance to establish the pathogenic role of uncertain variants, thus allowing us to provide the patient with a molecular diagnosis and with a recurrence risk for the siblings. INFORMATION

60 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES GENERAL

Andrea Ganna Elisa Giorgio Cambrdige, United States Torino, Italy

Talk: PL2.2 Quantifying the impact Talk: C02.1 Allele-specific silencing of rare coding variation across the as therapeutic strategy for disorders phenotypic spectrum due to gene duplication: a proof-of- Plenary Session PL2 What‘s New? Highlights principle in Autosomal Dominant

Session LeukoDystrophy (ADLD). SATURDAY Date & Time: Saturday, May 27, 2017, 16:45 Concurrent Session C02 Neurogenetics 1 hrs, Aarhus Date & Time: Saturday, May 27, 2017, 18:30 hrs, Copenhagen Q1: 10th November 1985, Varese, Italy Q2: Postdoctoral fellow Q1: Savona, 29/05/1984 Q3: I‘m always been fascinated about exploring large-scale Q2: I’m a post-doc researcher at the University of Turin, Dep. of datasets and implement novel statistical methods. Genetic is the Medical Sciences, Medical Genetics Unit (Italy). perfect training territory since it requires data-analysis abilities and Q3: Being a researcher in human genetics is not one single job, it

innovative approaches. Moreover, since it is mostly determined is thousands of jobs simultaneously. On the one day, I’m a scientist SUNDAY at birth, it can provide information about causality that no other who can change the life of people, an academic who can contribute risk factor can provide. Therefore is a unique tool for answering to the advancement of science, but also a “glasswarewasher”, a epidemiological questions. secretary, a talent scout, a manager, a technician, a psychologist, Q4: We explored for the first time an area of the allele frequency a fundraiser, a teacher and a student… What more exciting and spectrum that was not possible to explore before. Only by using charming job could anyone choose? such large-scale dataset we can now understand what is the Q4: My project represents a proof of principle for the use of Allele impact of this very deleterious group of variants and how they can SPecific-RNA interference (ASP-RNAi) as therapeutic strategy in affect a person‘s life. It is quite interesting that we can see an effect disorders associated with gene duplication. In this study, I used on number of hospital visits and educational attainment. This ASP-RNAi to treat Autosomal Dominant adult-onset demyelinating MONDAY indicates that the effect of these very rare variants is detectable Leukodystrophy (ADLD), a hereditary, progressive and fatal on population-level and, once we will have a better understanding disorder caused by lamin B1 (LMNB1) duplication, in in vitro pre- about the driving signals, these results might have a real clinical clinical studies. impact.

Jakob Goldmann Madelyn Gillentine Nijmegen, Netherlands Houston, TX, United States

Talk: C14.2 Clustered de novomutations TUESDAY Talk: C02.2 CHRNA7 CNVs: shared with large intra-mutational distance clinical phenotypes mediated by contribute to the maternal age effect differing molecular mechanisms Concurrent Session C14 Population Concurrent Session C02 Neurogenetics 1 Genetics and Ancient DNA Date & Time: Saturday, May 27, 2017, 18:45 Date & Time: Monday, May 29, 2017, 13:15 hrs, Copenhagen hrs, Athens

Q1: March 16, 1991 Q1: 28.02.1987, Hamburg, Germany SATELLITES Dallas, TX, USA Q2: I am PhD student in the Human Genetics Department of Q2: I am a graduate student in Dr. Christian Schaaf‘s lab at Nijmegen, the Netherlands in the Genome Research Section. I work Baylor College of Medicine in the Dept. of Human and Molecular in the bioinformatic group of Christian Gilissen. Genetics. Q3: Genetics is rocket science! Week by week, we get to know more Q3: I was inspired to pursue a career in genetics because I have two about our genome and about the way that it works or sometimes older brothers with autism spectrum disorder of differing severity. struggles to work. Year by year, new technical innovations make That, combined with my love of biology, made genetics the perfect possible what seemed science fiction before. Yet, we are still only career path! scratching the surface of many biological problems. The role of Q4: We are really excited about this work because it identifies genetics will continue to grow. In these times, working in genetics a mechanism for 15q13.3 duplications, focusing on CHRNA7, is extremely exciting. AWARDS in induced pluripotent stem cells (iPSCs) derived from patients Q4: Every single human being has a unique genome. This with 15q13.3 CNVs. While the genomics and mRNA expression of enormous diversity is established by de novo mutations, that CHRNA7 in duplication iPSC and differentiated neural progenitor are present in every newborn child, but not in its parents. Some cells (NPCs) suggest that we would have increased alpha7 nicotinic of these mutations occur very close to each other on the same acetylcholine receptors (nAChRs) at the membrane, we‘ve found chromosome, separated by less than 20 kbp. The group of these that both 15q13.3 deletion and duplication NPCs have decreased clustered mutations has properties different from the rest of de alpha7 nAChR functionality. We‘ve made steps in determining why novo mutations. We investigated these mutations and found that INFORMATION this occurs in duplication cells and deletion cells. Most interesting, they are associated with oocyte aging. They contribute a significant this suggests that similar therapeutics could be utilized for both fraction of all aging-associated mutation in the female germline. groups of probands, which have begun to be tested in clinical trials.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 61 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Claudia Gonzaga-Jauregui Tanya Halbersma-Konings Tarrytown, United States Groningen, Netherlands

GENERAL Talk: C13.4 Mutation spectrum Talk: C06.4 Recontact about clinically of NOD2 reveals recessive inheritance significant variant reclassifications in as a main driver of Early Onset Crohn's cardiogenetics; patient experiences Disease Concurrent Session C06 ELSI genomics Concurrent Session C13 Innovative Variant Date & Time: Saturday, May 27, 2017, 19:15 Interpretation hrs, Cologne Date & Time: Monday, May 29, 2017, 13:45 hrs, Aarhus Q1: 08-06-1985, Leiderdorp Q2: I’m a PhD-student on the subject of

SATURDAY Q1: March 17, Mexico City, Mexico re-contact in Clinical Genetics and a clinical geneticist in training at Q2: Senior Manager for Translational Genetics, Mendelian the University Medical Center Groningen in the Netherlands. Genetics Q3: Genetic information can greatly influence the lives of patients Q3: Much progress has been made in our understanding of and their family members. My goal is to give patients personalized human biology in health and disease; however to date there are information, help make choices ( that are right for them) and still thousands of disorders for which the molecular cause remains promote communication with family members and medical unknown. The patients suffering from these mainly rare and professionals, USING DIGITAL HEALTH AS A (POSSIBLE) SOLUTION uncharacterized disorders can go undiagnosed for years before (both in research and patient care).

SUNDAY having an answer to their disorder. Through genetics and genomics, Q4: Our genetic knowledge and diagnostic technologies are now we are able to identify the molecular cause for these disorders. increasing rapidly. This could lead to new genetic information Having a molecular diagnosis not only provides answers but also that is of medical relevance to former patients. But how should opens venues to treat patients and develop therapies that can cure we re-contact these patients ALSO REGARDING CONSTRAINTS or at least ameliorate patients’ symptoms. Additionally, linking IN WORKFORCE? WE NEED EMPIRICAL EVIDENCE TO PROVE genotypes with phenotypes expands our understanding of the FEASIBILITY (OID) In order to answer that question empirical role of unknown and poorly characterized genes in disease and evidence is needed. normal human physiology. Q4: We performed whole exome sequencing in a cohort of pediatric inflammatory bowel disease (IBD) patients to better understand Frederike Harms MONDAY the genetic architecture of pediatric IBD. We observed that a large Hamburg, Germany proportion of probands, majoritarily affected with Crohn‘s Disease (CD), were segregating rare and low frequency NOD2 variants in Talk: C16.2 Mutations in EBF3 disturb an autosomal recessive fashion. This observation is interesting transcriptional profiles and cause because while IBD GWAS have reported increased susceptibility intellectual disability, ataxia, and risk per allele, inheritance of NOD2 variants under a recessive facial dysmorphism Mendelian paradigm has not yet been reported as a major driver of Concurrent Session C16 Intellectual CD with an earlier age on onset. Our research illustrates the intimate Disability connections between rare and complex diseases, where recessive TUESDAY Date & Time: Monday, May 29, 2017, 13:15 inheritance of rare and disease susceptibility variants confers risk of hrs, Cannes disease presentation beyond the estimated additive model used in GWAS and more closely to Mendelian inheritance patterns. Q1: 25.05.1990, Lüneburg, Germany Q2: PhD Student in the group of Prof. Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg- Judith Grolleman Eppendorf, Germany Nijmegen, Netherlands Q3: I chose a career in genetics because I am very interested in identifying the genetic cause of rare diseases and thereby help the Talk: C17.4 A somatic mutational patients and their families to find answers to their questions. At the SATELLITES signature in different tumor institute I am working, we are not focussing on certain diseases. types associated with biallelic Instead, I am always confronted with new phenotypes which gives germline NTHL1 mutations room for my knowledge about genes, proteins, and pathways to Concurrent Session C17 Hereditary Cancer grow steadily. My work also involves a broad spectrum of genetic, Date & Time: Monday, May 29, 2017, 13:45 biochemical, and cell biological methods. So, I am not limited to hrs, Alicante explain the genetic cause of the patient’s phenotype but also get deeper insight into protein function and a variety of signaling Q1: 09-11-1991, Zutphen, The cascades. As I decided to become a scientist, I am very proud to

AWARDS Netherlands be nevertheless part of the patient care at our hospital (as I am Q2: PhD student at the Department of Human Genetics, Radboud participating in genetic counseling of patients included in my University Nijmegen Medical Centre, Nijmegen, The Netherlands. research projects) and I hope that some of my findings will lead to Q3: I've always been fascinated by the fact that aberrations in therapeutic interventions in the future. the DNA can affect the whole function and phenotype of an Q4: Next-generation sequencing allowed us to identify the EBF3 organism. gene, encoding a member of the early B-cell factor transcription Q4: The research I am presenting enables to determine the tumour factor family, as a novel disease gene for intellectual disability, phenotype of patients based on the mutation pattern of a tumour; speech delay, ataxia, and facial dysmorphism. from DNA level to patient (care). INFORMATION

62 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES GENERAL genetic diagnostics, which interests me most. Steven Harrison Q4: We became very good at detecting tiny mutations from Cambridge, United States sequencing data, but knew that exon deletions and duplications were being overlooked. In contrast to earlier studies, my research Talk: C19.2 ClinGen Sequence uncovers a significant burden and enrichment of rare CNVs in Variant Interpretation Work Group cardiomyopathy patients, revealing the clinical utility of CNV calling recommendations for ACMG-AMP in these conditions. In addition, I have developed a method that guideline specification

produces fewer false calls, decreasing the number of costly variant SATURDAY Concurrent Session C19 Diagnostic variant confirmations. I will present several clinically-significant CNVs and interpretation and quality control tell you how to find them. Date & Time: Tuesday, May 30, 2017, 11:15 hrs, Aarhus

Q1: May 30, 1984; Pleasanton, California, USA Leigh Jackson Q2: Clinical Molecular Genetics Fellow Exeter, United Kingdom Q3: My interest in genetics began in high school when I first drew a pedigree and attempted to understand the genetics of my family. Talk: C12.4 The European Gen-Equip project to create accessible resources

My interest has increased as I‘ve learned more about the utility of SUNDAY clinical genetics and the impact it has on the care of patients with for genetics education in primary genetic disorders. care: an account of the process, the Q4: The ACMG-AMP variant interpretation guidelines provide an challenges and the successes. evidence-based framework to classify variants; however further Concurrent Session C12 Engaging Patients guidance on application of the guidelines is critical to move in Genomics towards consistency in variant interpretations and transparency in Date & Time: Sunday, May 28, 2017, 13:45 classification rationale. hrs, Amsterdam Q1: 28/05/1984 Plymouth, United Kingdom MONDAY Q2: Lecturer in Genomic Medicine, University of Exeter Gaëlle Hayot Q3: I was always fascinated by science from an early age and Illkirch-Graffenstaden, France decided I wanted to be a forensic scientist. As I grew older, I became captivated by the wonders of evolution and genetics and decided Talk: C23.1 Complex cis-interaction is to pursue that instead. I have always had a passion for helping responsible for the craniofacial and others to understand science. neuroanatomical defects of the 4p16.1 Q4: Now that we stand on the edge of an avalanche of genomic copy number variant. information cascading into health services, it is imperative that Concurrent Session C23 Neurogenetics 2 the primary care clinicians on the frontline understand enough Date & Time: Tuesday, May 30, 2017, 11:00 TUESDAY about this often uncertain information to be able to best help hrs, Amsterdam their patients. Gen-Equip is creating high-quality free educational resources throughout Europe to assist the mainstreaming of Q1: 27/04/1989, Paris genetics in the clinic. Q2: PhD student in the Institute for Genetics and Molecular and Cellular Biology (IGBMC), Strasbourg, France Q3: The complexity of the genome amazes me. I am especially interested in understanding how some mutations cause human Katherine Johnson diseases while others are a motor of evolution. Newcastle upon Tyne, United Kingdom SATELLITES Q4: Using zebrafish, we are dissecting a rare CNV that has been linked to Autism Spectrum Disorder (ASD). We show that in that Talk: C08.4 Application of exome CNV, the different phenotypes of the patients are caused by sequencing technologies to 1,000 different major drivers. patients affected by limb-girdle weakness of unknown origin Concurrent Session C08 Neuromuscular Disorders Frank Honti Date & Time: Sunday, May 28, 2017, 13:45 London, United Kingdom hrs, Athens

Talk: C21.4 Copy number variants AWARDS Q2: Research Associate at Newcastle University account for at least 2% of non- Q3: I was always interested in science at school. I think it remarkable syndromic cardiomyopathies how seemingly small and insignificant DNA is, yet it is the molecular Concurrent Session C21 Cardiovascular code for all living things – I love how nature is so intricate and finely- disorders tuned. When I was able to specialise for my undergraduate degree, I Date & Time: Tuesday, May 30, 2017, 11:45 knew that genetics was the only career for me. It isn‘t just the subject hrs, Cannes of my degree and now my job, it is one of my biggest passions. Q4: To the best of our knowledge, we have gathered the largest INFORMATION Q1: 5th Dec. 1982, Cebovce, Slovakia ever cohort of patients with an unexplained limb-girdle weakness Q2: Bioinformatics Analyst at the Royal Brompton Hospital and phenotype. These debilitating diseases are relatively rare in the Honorary Teaching Fellow in Genomic Medicine at Imperial College general population, but collectively affect many people and can London ultimately precipitate premature mortality. By sequencing the Q3: Having been a curious kid, I created my first genetically exomes of the affected individuals, we are able to decipher the true modified plants with colchicine at the age of 15. Afterwards, I genetic cause of rare muscle diseases, explaining how single DNA studied biochemistry and genetics and I feel very lucky to work in changes have such huge consequences.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 63 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Hákon Jónsson Q2: I‘m a second year doctoral student in Estonian Genome Center Reykjavík, Iceland Q3: I wanted to learn how genetics defines us in so different levels and how it can be used to study or predict different traits, diseases,

GENERAL Talk: C15.1 Aging oocytes accelerate regional sequence and even history. I thought understanding more about genetics is diversity in humans and African apes crucial for understanding life in general and therefore I chose it for Concurrent Session C15 Reproductive Genetics my specialty. Date & Time: Monday, May 29, 2017, 13:00 hrs, Copenhagen Q4: We study adverse drug reactions using Electronic health records for the first time in Estonian population. Our study shows Q1: Sturlugata 8 that using e-health system is a powerful way to study genomics Q2: Researcher at deCODE Genetics, working on de novo and proposes a way to identify individuals potentially at risk for mutations. unexpected drug response. Q3: Initially coming from a mathematical background, I was

SATURDAY fascinated by the unique synergy of statistics, biology and computing in the interdisciplinary field of genomics. Sparked by Kilan Le Guennec this scientific curiosity, I pursued a Phd in evolutionary genomics at Rouen, France the University of Copenhagen, which I completed in 2015. Q4: De novo mutations are the building blocks of evolution Talk: C02.3 17q21.31 duplication causes generated in a sex specific manner in the parental germlines. In prominent Tau-related Dementia with our research we phased DNMs, allowing us to accurately estimate Increased MAPT expression age-effects and mutational spectra in both germlines. We show Concurrent Session C02 Neurogenetics 1 a profound impact of maternal age on the regional sequence Date & Time: Saturday, May 27, 2017, 19:00 SUNDAY diversity of human populations and divergence between African hrs, Copenhagen great ape species. Q1: 06/20/1989 DOMONT, FRANCE Q2: Ph.D Student Mariann Koel Q3: Knowing that genetic disorders can be driven by a single Tartu, Estonia variation within the 3 billion base pairs of the human genome is fascinating. By discovering novel disease-causing variants, we can Talk: C15.2 Interactome between therefore help understanding the molecular basis of the diseases embryo trophectoderm cells and and promote the development of drugs. MONDAY endometrial epithelial and stromal Q4: We describe here a novel clinico-pathological entity driven by cells: novel insights into implantation a genomic duplication of the 17q21.31 locus, encompassing the process in human MAPT /Tau gene. Duplication carriers have increased MAPT/Tau Concurrent Session C15 Reproductive expression and neurodegeneration associated with an extensive Genetics Tau pathology, leading to early-onset dementia. Date & Time: Monday, May 29, 2017, 13:15 hrs, Copenhagen Stefan Lelieveld Q1: 2nd of July in Põlva, Estonia Nijmegen, Netherlands TUESDAY Q2: I am PhD student in University of Tartu and researcher in the Competence Centre on Health Technologies. Talk: PL2.6 Analysis of de novomutation Q3: My real passion is reproductive biology of humans. It is clustering identifies candidate interesting to explore the early days of human development and disease genes in neurodevelopmental shed light to the molecular mechanisms of the pregnancy. I also disorders due to likely gain-of-function believe that the understanding of molecular causes of fertility is and dominant-negative mechanisms critically important in the aging society. Plenary Session PL2 What‘s New? Highlights Q4: Our endeavor is to solve the mystery of the growing human Session embryo attachment to the uterus. We moved closer to that objective Date & Time: Saturday, May 27, 2017, 17:45

SATELLITES by predicting the possible interactions between the mother and hrs, Aarhus embryo on the cellular level. Therefore, describing the events taking place during the very first steps of human pregnancy. Q1: 2nd January 1987, Voorburg Q2: I am a bioinformatics PhD student at the Genomics Disorders Group in the Radboud University Medical Centre Nijmegen Kristi Krebs Q3: Working as a bioinformatician in genetics gives me the Tartu, Estonia opportunity to work on the intersection of biology, computer science and statistics. I believe genetics is increasingly becoming a

AWARDS Talk: PL2.4 Genetic variation data-driven discipline where the analysis of large genomic datasets in the Estonian population: a will give us more insight on how mechanisms of disease work and pharmacogenomic study of adverse provide important answers to patients and their families. drug reactions using electronic health Q4: I believe that our findings are of great interest as we developed records a novel statistical method to identify disease genes within large Plenary Session PL2 What‘s New? Highlights trio studies that can easily be applied by others. Moreover, the Session application of our method to public datasets identifies novel Date & Time: Saturday, May 27, 2017, 17:15 candidate genes for neurodevelopmental disorders and suggests hrs, Aarhus a larger role for disease mechanisms other than haploinsufficiency than previously thought. I hope that the methodology shown in Q1: 09.01.1990 Tallinn, Estonia this study will encourage fellow researchers to use the presented INFORMATION

64 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES GENERAL approach on their in-house cohorts. In addition, I believe that the M.Loretto Munoz-Venegas identification of novel candidate genes will lead to new insights Lübeck, Germany into the disease mechanisms and potentially in the long term, to therapy. Talk: C21.3 Generalized compound heterozygosity analysis highlights associated loci for coronary artery Vasiliki Matzaraki disease in genetic and exome data

Groningen, Netherlands Concurrent Session C21 Cardiovascular SATURDAY disorders Talk: C01.3 A first genome-wide Date & Time: Tuesday, May 30, 2017, 11:30 systems genetics approach identifies hrs, Cannes risk loci and pathways for candidaemia susceptibility Q1: 31/07/1981; Cape Town, South Africa Concurrent Session C01 Personalized Q2: Postdoc at Institute for Cardiogenetics, University of Lübeck, Medicine and Pharmacogenomics Germany Date & Time: Saturday, May 27, 2017, 19:00 Q3: I don‘t think I consciously chose a career in genetics, it feels like hrs, Aarhus

it chose me. It all started when, at a very young age, I accompanied SUNDAY my mom to her lab at work one Saturday morning and looked Q1: 14 April 1984, Xanthi, Greece through my first („grown-up“) microscope – I was hooked to the Q2: I am a PhD student and have started my project in September sciences and my curiosity was peaked. Since then, especially during 2014. my graduate studies, I have tried to pursue the questions I found Q3: I am fascinated by the wealth of information that is hidden most interesting; putting in the long hours and hard work to find in our DNA and I wanted to learn why some individuals are more their answers. Therefore, I would say that following my passion has susceptible to a disease compared to others. If we understand this been an influential guide throughout my career path. process, we may be able to develop new treatments and to prevent Q4: In our study, we wanted to contribute to the current search for the disease. genetics of coronary artery disease (CAD), by using the generalized MONDAY Q4: The interactions between environment and our genome form of double compound heterozygosity (GCDH) to detect the have evolutionarily shaped our genome. Exploring the functional genetic associations caused by compound heterozygosity in implications of DNA variants in the context of a phenotype is more European ancestry genetic and exome data. From our results, SNPs insightful and, therefore, I am capturing these interactions in the found to be genome-wide significant (≤5x10-8) using the single- context of an infectious disease (candidaemia) by investigating SNP based method were confirmed by GCDH; while others were multiple molecular phenotypes, which may individually or together only identified by using GCDH (≤1.25x10-10). Thus hinting towards cause the infection. possible underlying mechanisms of CAD. TUESDAY Terri McVeigh Lusine Nazaryan-Petersen Sutton, United Kingdom Copenhagen, Denmark

Talk: C01.1 The role of Next-generation Talk: C09.3 Whole genome sequencing in tumours in Adolescents characterization of array defined and young adults (AYA) with advanced clustered CNVs reveals two distinct solid tumors participating in phase I complex rearrangement subclasses trials generated through either non- SATELLITES Concurrent Session C01 Personalized homologous repair or template Medicine and Pharmacogenomics switching Date & Time: Saturday, May 27, 2017, 18:30 Concurrent Session C09 Molecular hrs, Aarhus Mechanisms of Disease Date & Time: Sunday, May 28, 2017, 13:30 hrs, Copenhagen Q1: 25/07/1986, Sligo, Ireland Q2: Clinical Research Fellow in Cancer Genetics, Royal Marsden Q1: 23, December, 1980, Yerevan (Armenia) NHS Trust, London UK Q2: Post doc. Q3: Clinical genetics is incredibly varied, and always challenging - if Q3: I got my fascination in genetics in my high school while I was the science isn‘t difficult enough, there will often be an ethical or resolving simple tasks to figure out the patterns of inheritance. AWARDS psychosocial issue to deal with to keep things interesting! Q4: We NGS sequenced clusterred CNVs to confirm whether or not Q4: Adolescents and young adults are an interesting group - with they can be defined as chromothripsis or chromoanasynthesis, unique needs and risk factors. Identifying germline defects in such as well as we looked at the breakpont-junctions to predict the individuals is crucial, as most will have young siblings, children, potencial mechanisms for those complex rearrangements. or even young parents that all may be at risk of cancer. Somatic defects in these individuals are also noteworthy, as they may represent targets novel therapeutic agent. This study highlights the importance of profiling both the soma and the germline of these INFORMATION patients for their benefit, and the benefit of the wider family.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 65 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Asmundur Oddsson Sander Pajusalu Reykjavik, Iceland Tartu, Estonia

GENERAL Talk: C10.2 The deCODE replication Talk: C02.5 BZRAP1 (RIM-BP1) server, a resource for the replication mutations cause a novel autosomal of published genotype-phenotype recessive dystonia syndrome associations Concurrent Session C02 Neurogenetics 1 Concurrent Session C10 GWAS: Resolving Date & Time: Saturday, May 27, 2017, 19:30 Missing Causality hrs, Copenhagen Date & Time: Sunday, May 28, 2017, 13:15 hrs, Cannes Q1: April 7, 1988, Tartu, Estonia. Q2: Clinical geneticist in training at Tartu

SATURDAY Q1: 14th of may 1980 University Hospital and PhD student at the Institute of Clinical Akureyri, Iceland Medicine, University of Tartu, Estonia Q2: Research associate at deCODE genetics in Reykjavik Iceland Q3: As a medical doctor, I am convinced that every patient deserves Q3: The recent technical advances in sequencing have opened a clear personal diagnosis which then should serve as the basis for up new and interesting opportunities in human genetic research, personalized care. Working in a genetics clinic provides me the where suddenly we have population-scale genotype/phenotype ability to work towards this dream by searching for disease causing information. After finishing a PhD were the main focus was genetic variants, counselling the patients, and doing research. on making and interpreting mouse knockout models I saw an Q4: Describing a completely novel genetic syndrome by combining

SUNDAY opportunity to apply that experience in the filed of human the data from exome sequencing, model organisms and patients’ genetics. phenotypes is always exciting. Even more, I am fascinated how Q4: One of the pillars of genome wide association studies (GWAS) the modern data sharing efforts made our discovery possible is the replication of genotype-phenotype association. We have by making international collaboration truly efficient. Finally, the created a resource that will allow for assessing of published GWAS patients involved in our study received the long-waited molecular genotype-phenotype associations in the Icelandic population. This diagnoses. work will benefit the GWAS research community as a whole and should be of some interest. Petros Patsali Nicosia, Cyprus MONDAY Paula Ortiz-Romero Barcelona, Spain Talk: C01.2 Less is More: knockdown of the aberrant HBB IVSI-110(G>A) mRNA Talk: C21.2 Epigallocatechin-3-gallate restores HBB expression and enhances prevents cardiac hypertrophy in a gene therapy by gene addition in Williams-Beuren syndrome mouse primary erythroid cells model Concurrent Session C01 Personalized Concurrent Session C21 Cardiovascular Medicine and Pharmacogenomics

TUESDAY disorders Date & Time: Saturday, May 27, 2017, 18:45 Date & Time: Tuesday, May 30, 2017, 11:15 hrs, Aarhus hrs, Cannes Q1: 13/01/1987, Paralimni, Cyprus Q1: 27th of February, 1994, Barcelona Q2: I am a postdoctoral researcher in the department of Molecular Q2: I am a PhD student in the Genetics Unit at Universitat Pompeu Genetics Thalassaemia at The Cyprus Institute of Neurology and Fabra (Barcelona). Genetics (CING) Q3: Science, and specifically biology, has always been my main Q3: Since the early stage of my biology undergraduate studies, interest when deciding about my professional career. What I find I have always been fascinated by the intricacy of biology and more attractive about genetics is that it is closely related to health the role of genetics in the fine balance between health and SATELLITES and disease, and human disease research has always been the disease. Genetics is now a rapidly evolving field, approaching a most interesting area of study for me. comprehensive understanding of diseases and offering unique Q4: Our research is focused on Williams-Beuren syndrome and opportunities to develop novel therapies, such as those based on cardiovascular alterations associated to it. Our results revealed gene addition and genome editing. a molecule that could be used as a therapeutic agent. Moreover, Q4: We address aberrant β-globin mRNA as a factor in the disease the description of the pathway that is being affected allows pathology of β-thalassaemia by using RNAi, which merely removes the identification of alternative targets that may have the same aberrant transcripts but which in contrast to antisense-mediated therapeutic effect. splice repair can be applied as a single, permanent treatment,

AWARDS suitable for clinical translation. Planning to use RNAi merely to boost β-globin gene addition, we were surprised to see that RNAi not only enhances gene addition, but that it outperforms the latter when applied alone, by increasing endogenous β-globin levels. Our findings emphasise the importance of patient genotype, towards truly personal and more effective gene therapy. INFORMATION

66 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES GENERAL

Antoine Paul Margot Reijnders Paris, France Nijmegen, Netherlands

Talk: C11.1 FDXR mutations cause Talk: C16.3 Recurrent de novo sensorial neuropathies, a new missense mutations in small GTPase mitochondrial Fe-S disease. gene RAB11B cause severe intellectual Concurrent Session C11 Sensory disorders disability and a distinctive brain

Date & Time: Sunday, May 28, 2017, 13:00 phenotype SATURDAY hrs, Alicante Concurrent Session C16 Intellectual Disability Q1: 7th September 1987, Paris Date & Time: Monday, May 29, 2017, 13:30 Q2: I am currently working as an intern hrs, Cannes specialized in ENT. Q3: I spent one year working in genetic as I am very interested in Q1: July 27th 1989, Roosendaal (The Netherlands) congenital genetic deafness. Correlating clinical and genetic data Q2: PhD student is key to improve our knowledge about physiopathology, and will Q3: During my medicine study, I was always fascinated by

moreover help in enhancing the care of affected children, in term underlying genetic causes of diseases: very small defects in the SUNDAY of screening, diagnosis and treatment. human genome can have big consequences for the patient. This, Q4: Our work provided understanding of the genetic cause in as well as the fact that a large field within genetics is still unknown children suffering from auditory and optic neuropathies. To date, and has to be discovered, did me choose for a career in genetics. few is known about genetic cause of auditory neuropathy. Less Q4: Parents of five patients have searched for years for an is known about the rare cases of auditory associated with optic explanation of the developmental delay in their child. Not only neuropathies. Studying the gene responsible for this particular the introduction of WES in diagnostics, but also the increasing association may provide a better understanding of the synaptic or possibilities to share data with clinicians and researchers all over neuronal transmission in sensorineural conditions. the world, allowed us to find the cause of the problems in the

children: all had missense mutations in the RAS-GTPase RAB11B. MONDAY Because only two different mutations were present in the five Olga Plotnikova patients, we were able to focus our study on the functional effects Moscow, Russian Federation of these specific missense mutations. Since RAB11B amino acids and domains are highly conserved among other members of the Talk: C22.2 Expression insights into the RAS-family, our results could potentially be used for other RAS- human miRNA-mRNA interactome GTPases as well, of which many still await to be discovered. Concurrent Session C22 Systems Genetics Date & Time: Tuesday, May 30, 2017, 11:15 hrs, Alicante Lehti Saag TUESDAY Tartu, Estonia Q1: 18 march 1993, Moscow (Russia) Q2: PhD student in the Laboratory of Talk: C14.4 Farming in Estonia was Functional Genome Analysis, Moscow introduced by Early Bronze Age Institute of Physics and Technology migrants from the Steppe Q3: I have always had a strong interest in research and challenging Concurrent Session C14 Population tasks that can help people. As my way in science, I chose to apply Genetics and Ancient DNA bioinformatics methods for proceeding and understanding big Date & Time: Monday, May 29, 2017, 13:45 SATELLITES biology data. I believe that it helps to reveal some new insights at hrs, Athens the regulation level of the human genome. Rapid development in genetics inspires me and reminds how complex is human Q1: 30.04.1991; Tartu, Estonia genome. Q2: PhD student Q4:„Expression insights into the human miRNA-mRNA interactome“. Q3: I have been interested in biology, evolution and archaeology In my research, I present different miRNA groups that could be since I was little so archaeogenetics and ancient DNA studies are biomarkers associated with adverse prognostic features in cancer the perfect study area for me. and other severe pathologies. Only about 1% of mRNAs are actively Q4: Ancient DNA studies are extremely important for obtaining engaged in miRNA interactions. Furthermore, we identified information about the demographic history of the world. My several coding mRNAs with a substantial sponge effect, including research from the Baltics (Estonia) shows very interesting results AWARDS AGO1, which function may reflect the competition and resultant of hunter-gatherers being directly followed by Steppe ancestry coevolution of mRNAs and miRNAs. farmers, skipping the first wave of farming into Europe from Anatolia. INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 67 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Svenja Schneider Patrick Short Cologne, Germany Hinxton, United Kingdom

GENERAL Talk: C08.2 Neurocalcin delta as a Talk: C02.6 De novo mutations novel protective modifier for spinal in regulatory elements cause muscular atrophy: A full story from neurodevelopmental disorders gene identification to therapy Concurrent Session C02 Neurogenetics 1 Concurrent Session C08 Neuromuscular Date & Time: Saturday, May 27, 2017, 19:45 Disorders hrs, Copenhagen Date & Time: Sunday, May 28, 2017, 13:15 hrs, Athens Q1: September 10th, 1991, Summit, New Jersey, USA

SATURDAY Q1: 09.07.1986 Oldenburg, Germany Q2: PhD student in Mathematical Genomics and Medicine at Q2: PhD student in the research group of Prof. Dr. Wirth at the the University of Cambridge, supervised by Matt Hurles at the Institute of Human Genetics in Cologne, Germany Wellcome Trust Sanger Institute. Q3: Genetics and especially human genetics is an exciting discipline Q3: I started off studying mathematics. When I was introduced for me, because unraveling the functional relevance of genes and to the concept of genome sequencing around 2009, I was blown the mechanisms underlying genetic disease phenotypes fascinate away by how rapidly the technology had been progressing and all me, as it provides insights in the fundamental processes of our of the amazing research already being done. I swapped my degree bodies. With the development of modern molecular, biological and from Mathematics and Economics to Mathematics and Biology

SUNDAY high-throughput sequencing methods in the last decades, the field and got involved with research at my University, starting first in of human genetics is rapidly evolving and continuously pushing mathematical modelling of the yeast mitotic spindle, then moving the frontiers of human knowledge, thus making it an extremely into cancer genetics and analysing gene expression microarrays. interesting work field. I found the confluence of mathematics, computer science, and Q4: Our research field aims at the identification of new genetic genetics to be incredibly exciting and a perfect fit for my skills modifiers for SMA, a very common genetic neuromuscular disorder. and interest. While the role mathematics and computer science By analyzing the genome of rarely existing genetic discordant has grown in many other fields, the prospect of having a tangible families, we identify differentially regulated genes in individuals impact on people‘s health and wellbeing that comes along with who are protected from SMA. Unravelling the functional role of research in genetics is a powerful motivation. these modifying genes allows us not only to find impaired processes Q4: Exome sequencing (sequencing the protein-coding parts MONDAY in SMA, as recently shown for endocytosis, but also deepens our of the genome) has been incredibly successful at identifying understanding of the complex SMA pathogenesis. Our pivotal goal genes which, when disrupted by a mutation, result in severe is to translate this knowledge to further establish novel therapies developmental disorders. However, still more than half of families to counteract disease phenotype. with a rare developmental disorder remain without a diagnosis. There has been great speculation about the degree to which mutations outside of protein-coding genes, in regulatory elements Mahsa Shabani such as enhancers, contribute to developmental disorders. My Leuven, Belgium research as a part of the Deciphering Developmental Disorders project, based on genetic data from almost 8,000 families, is the TUESDAY Talk: C06.3 Legal framework for genomic data sharing in view first study to show that mutations in regulatory elements do of the new EU General Data Protection Regulation contribute to developmental disorders. Moreover, we can make an Concurrent Session C06 ELSI genomics estimate for the proportion of all unsolved cases that are explained Date & Time: Saturday, May 27, 2017, 19:00 hrs, Cologne by mutations in these elements with a dominant mechanism (only 1-3%) as well as the proportion of sites within a regulatory element Q1: 2 April 1984, Zanjan, Iran that, when mutated, cause a disorder with a dominant mechanism Q2: PhD researcher (far fewer than in genes). These estimates have important Q3: I am fascinated with the potentials of genomic data and how implications for how whole genome sequencing studies should be they could revolutionize medical diagnosis and drug development. conducted and analysed in the future. In particular, that more work SATELLITES Nevertheless, there are certain ethical, legal and social challenges on understanding the ‚grammar‘ of regulatory elements is crucial associated with processing genomic data, which need to be and that several hundred thousand families would be needed to addressed by adequate mechanisms and policies. Working on comprehensively identify disease-associated regulatory elements. ethical and legal aspects of genetic testing and genomic research provided me with an opportunity to contribute to a very dynamic interdisciplinary field, which is at a crossroad of science and Magdalena Socha society. Poznań, Poland Q4: Adopting adequate privacy safeguards is paramount when

AWARDS processing genomic data for research or clinical purposes. One Talk: C05.4 A 10q24.32 duplication of the major legal instruments for personal data protection in the causes bilateral femoral hypoplasia EU is the new General Data Protection Regulation (GDPR), which through formation of a novel sub-TAD has entered into force in May 2016 and repealed the Directive Concurrent Session C05 Skin and Bones 95/46/EC, with an ultimate goal of enhancing effectiveness and Date & Time: Saturday, May 27, 2017, 19:15 harmonization of personal data protection in the EU. My research hrs, Amsterdam discusses the rules for processing genomic data for research purposes in view of new GDPR. Q1: 30.08.1984 Koszalin Q2: Assistant, Chair and Department of Medical Genetics, Poznan University of Medical Sciences

INFORMATION Q3: My interests have always centred on biology and medicine. As a biologist I was drawn to the depth and breadth of the field 68 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES GENERAL of medical genetics and the countless challenges it creates. I have Danya Vears come to discover that the more I learn and understand about Leuven, Belgium genetics the deeper I want to explore it. Q4: What makes this study captivating is the identification of a Talk: C06.2 Recommendations for the novel cause of a unique and extremely rare malformation - femoral reporting of results from diagnostic hypoplasia. Moreover, despite the fact that on the genomic level next generation sequencing the causative aberration is very similar to the duplications reported Concurrent Session C06 ELSI genomics

in the split hand/foot malformation cases our patients‘ phenotype SATURDAY Date & Time: Saturday, May 27, 2017, 18:45 is strikingly different. hrs, Cologne

Q1: 12/05/1981 Melbourne, Australia Ana Sophia Valente Q2: I am a postdoctoral research fellow Porto, Portugal with the Centre for Biomedical Ethics and Law, KU Leuven in Begium where I am exploring ethical issues related to diagnostic Talk: C04.5 Cis-Regulatory Noncoding uses of next generation sequencing. Elements, the hidden master weavers Q3: I have been drawn to the field of human genetics since high of CDH1expression: lessons from

school. As soon as I learned there was a profession which combined SUNDAY HDGC patients genetics, psychology and helping people, namely genetic Concurrent Session C04 Epigenetics and counselling, I knew I had found my niche! I am a trained genetic Gene Regulation counsellor but I love exploring people‘s perspectives on ethical Date & Time: Saturday, May 27, 2017, 19:30 issues relating to genetics and genomics so qualitative research hrs, Alicante has become my focus. Q4: Although next generation sequencing has been around Q1: 20-08-1993, Porto, Portugal for quite a few years, researchers and clinicians are still in doubt Q2: I am a research fellow at the Expression Regulation in Cancer about which findings to report following diagnostic testing and Group at the Institute for Research and Innovation in Health (i3S), guidelines by professional bodies are not very explicit on this MONDAY Porto, Portugal issue. I organised a working group of experts in this field in order Q3: For me, the choice of a career in the genetics field was not a to develop some useful recommendations to address this need conscious decision or a plan that I followed. During my studies I did in order to assist laboratories in their decision making about the a couple internships in different areas and then I was very lucky to reporting of variants. had a wonderful mentor who „contaminated“ me with his passion for genetics. And I‘m still here, highly enthusiastic for what comes next in this fast-developing field. Arnau Vich Vila Q4: Hereditary Diffuse Gastric Cancer (HDGC) is a syndrome with Groningen, Netherlands high mortality rate that remains genetically unexplained in 50% of TUESDAY cases. With this research we try to understand the genetic cause in Talk: C18.2 The microbiome of these cases by looking at the noncoding portion of the genome. If inflammatory bowel disease and confirmed, our data could dramatically improve the diagnosis and irritable bowel syndrome - a case- management of these HDGC patients and their families. control study of 1792 individuals Concurrent Session C18 Internal organs Date & Time: Monday, May 29, 2017, 13:15 Hanne Valgaeren hrs, Amsterdam Edegem, Belgium SATELLITES Q1: 29/08/1988, Sabadell, Barcelona Talk: C11.3 Rare genetic variants (Catalunya) in MEPE cause congenital facial Q2: PhD Student paresis with stapes fixation, and are Q3: Genetics is a fascinating field. I think it was fascinating to me the associated with otosclerosis challenge of understanding as something as basic as the interplay Concurrent Session C11 Sensory disorders of nucleotide pairs can become something as complex as long Date & Time: Sunday, May 28, 2017, 13:30 populations and interactions of living organisms. I also like genetics hrs, Alicante because it is a stimulating field that evolves quickly. Q4: We study two of the most common gastrointestinal (GI)

Q1: 24/03/1990 Boom disorders; Irritable bowel syndrome (IBS) and inflammatory bowel AWARDS Q2: Last-year PhD student at the Human Molecular Genetics group disease (IBD). In previous studies, we found that high IBD genetic of the Center of Medical Genetics, University of Antwerp & Antwerp risk score is associated with a decrease in the genus Roseburia in the University Hospital gut microbiota of healthy controls without gut complaints. Now by Q3: Genetics has always fascinated me. From the introduction to using microbial whole-genomes sequencing, higher taxonomical Mendel’s laws in secondary school throughout my Biomedical resolution can be reached and microbial functional pathways can be Sciences study at the University of Antwerp, this has only increased. inferred. In this large case-control study we identified species- and It is fascinating how much information is encoded in our genes. strain-level microbial signatures associated with IBD and IBS, using INFORMATION When my PhD-position became available, I did not hesitate to apply stool samples from 355 IBD patients, 421 IBS patients and 1025 in the hope of making a contribution to the field. population controls. Strikingly, a substantial overlap between the gut Q4: The research we present here has been performed in a large microbiomes of patients with IBD and IBS compared to controls was collaboration, and has led to the identification of one of the first observed. Nevertheless, we could distinguish IBD from IBS, using the otosclerosis genes, which is a break-through for the field. Furthermore, high resolution microbial signatures as a biomarker. Our non-invasive since we screened the gene in more than one thousand patients and stool test performed much better than the currently used fecal more than one thousand controls, our study has sufficient power to calprotectin test. Our study shows the importance understanding unambiguously define its role in otosclerosis development. the gut microbiome and the opportunities for clinical treatments. ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 69 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Norine Voisin Nicola Whiffin Lausanne, Switzerland London, United Kingdom

GENERAL Talk: C20.3 Variants in the degron motif of AFF3 cause a multi- Talk: C19.4 High-resolution sytem disorder with skeletal dysplasia and severe neurologic variant filtering empowers clinical involvement interpretation and provides insights Concurrent Session C20 Molecular syndromology into variant penetrance and Date & Time: Tuesday, May 30, 2017, 11:30 hrs, Copenhagen population-specificity Concurrent Session C19 Diagnostic variant Q1: January 19th, 1991 at Aubergenville, France interpretation and quality control Q2: PhD student Date & Time: Tuesday, May 30, 2017, 11:45 Q3: I have always been interested in rare disorders and their hrs, Aarhus mechanisms. SATURDAY Q4: Besides expanding the number of individuals with CHOPS Q1: 25th October 1988 in Derby, UK syndrome, caused by mutations in AFF4, I will report on individuals Q2: I am currently a Bioinformatics Research Associate at the MRC with de novo mutations in AFF3. AFF3 has never been associated London Institute of Medical Sciences and the National Heart and with pathologies before, and the new syndrome described here, Lung Institute at Imperial College London. including intellectual disability and skeletal dysplasia, is distinct Q3: It was as an undergraduate, studying Natural Sciences, that I from CHOPS syndrome. was introduced to genetics. At that moment, I decided it was what I wanted to pursue. From then on, I have always followed the aspect

SUNDAY of my work that I enjoy the most. During my PhD I stumbled upon Kaitlin Wade bioinformatics, and was encouraged to learn to code. I have never Bristol, United Kingdom looked back. Genetics, to me, is the perfect mix of the sciences; I find it fascinating and my work has a real clinical impact. Talk: C10.3 Assessing the causal role Q4: Clinical genetic testing can be crucial in disease diagnosis of body mass index on cardiovascular and management of patients and their relatives; however, it can health in young adults: a Mendelian be tricky to determine which variants are disease-causing. Allele randomization and recall-by-genotype frequency is a key discriminator, as variants that are common in the analysis general population cannot be causing a rare disease. We have taken Concurrent Session C10 GWAS: Resolving this idea further, really digging down into disease architecture to MONDAY Missing Causality determine ‘how common is too common?’ I am going to talk about Date & Time: Sunday, May 28, 2017, 13:30 how our statistically robust frequency thresholds add power to hrs, Cannes interpreting genetic variants, removing many candidate variants from contention but preserving variants that are truly disease- Q1: 12/05/1990 in St. Albans, UK causing. Q2: Research Associate at the Integrative Epidemiology Unit based within the School of Social and Community Medicine at the University of Bristol. James Whitworth Q3: The ability to use multiple ‘omics’ data within a conventional

TUESDAY Cambridge, United Kingdom epidemiological setting plus the skills and knowledge I acquired throughout my PhD motivated me to pursue a career in genetic Talk: C17.3 The optimal cancer epidemiology, applying and developing these complex methods genetics testing tool? - Diagnostic to explore the causal relevance of adiposity on adverse health. whole genome sequencing in research Q4: With this innovative study design, using complementary participants with multiple primary multivariable regression, Mendelian randomization (MR) and recall- tumours by-genotype (RbG) analyses, results strongly suggest a causal role Concurrent Session C17 Hereditary Cancer of higher BMI resulting in adverse cardiovascular health in young Date & Time: Monday, May 29, 2017, 13:30 adults. The consistency between results found from RbG with 418 hrs, Alicante

SATELLITES participants to those from MR with 7,909 participants suggests this approach is valid and statistically very efficient. Furthermore, the Q1: 21/01/1982 - Winchester, UK. RbG method predominantly allowed the collection of extremely Q2: Clinical research fellow - Department of Medical Genetics, precise cardiovascular phenotypes that would otherwise not have University of Cambridge. been possible in sample sizes required for MR. Q3: Confirmation bias applied retrospectively can make career decisions seem less arbitrary but I remember genetics being the subject I enjoyed most in medical school, probably because of its ability to (sometimes) explain disease from first principles and the

AWARDS surge in technological advances in the area. The opportunity costs associated with applying for genetics posts where sufficiently small to keep going and I‘m very happy I did. Q4: The massively parallel sequencing era in clinical cancer genetics prompts aspirational thoughts of the perfect test which can sensitively and specifically detect all relevant variation in one assay. Intuitively, one might imagine that whole genome sequencing is the technique to achieve this goal but whether it can offer much more than existing technologies in the clinic is a question that hasn‘t frequently been addressed. This work is a step on the road

INFORMATION to answering it.

70 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES GENERAL

Anja Will Victor Yakimov Berlin, Germany Copenhagen, Denmark

Talk: PL2.1 Enhancer composition and Talk: C14.3 Admixture mapping dosage control developmental gene identifies Inuit ancestry loci expression associated with metabolic traits in the Plenary Session PL2 What‘s New? Highlights Greenlandic population

Session Concurrent Session C14 Population SATURDAY Date & Time: Saturday, May 27, 2017, 16:30 Genetics and Ancient DNA hrs, Aarhus Date & Time: Monday, May 29, 2017, 13:30 hrs, Athens Q1: 31.01.1986 Pirna, Germany Q2: I am a PhD Student at the Max-Planck-Institute of Molecular Q1: September 9th, 1987 — Sofia, Bulgaria Genetics in Berlin. Q2: Bioinformatician Q3: For me, genetics is a fundamental element of life as the genome Q3: Living things are these messy, incredibly complicated, but of every organism is unique. This is achieved by variations in the ultimately knowable pieces of chemical machinery. I think genetics

genome that might be tolerated but can also result in disease as is the best way to determine what each of the different parts do. SUNDAY these variations might influence genome organization and gene Q4: Isolated populations living in extreme conditions face unique regulation. I was always interested in how genes are regulated and selective pressures, and this should be reflected in their genetic how faulty regulation might be associated with diesease. profile. Looking at local ancestry is a way to directly examine this. Q4: Gene expression is regulated by enhancers, which commonly arrange in clusters. To date, enhancer function has been assessed by deletion studies only, without considering the effects of increased enhancer dosage or alterations in the composition of enhancer clusters - modifications that are common in human disease. I studied this phenomenon at the Ihh locus, at which MONDAY variable non-coding duplications have been associated with the human phenotypes Craniosynostosis and Syn(poly)dactyly.

Rosa Woldegebriel University of Helsinki, Finland

Talk: C23.5 ATPase-deficient ATAD3A alters mitochondrial dynamics in TUESDAY hereditary spastic paraplegia Concurrent Session C23 Neurogenetics 2 Date & Time: Tuesday, May 30, 2017, 12:00 hrs, Amsterdam

Q1: 1989, Helsinki Q2: Student Q3: Science can make a real difference in the world, and that is SATELLITES what I am passionate about. Genetics is the most fascinating and endless source of discovery and I could not think of a better career than genetics combined with neuroscience - neurogenetics. These two complex and intertwined fields can help us understand how genetic changes contribute to neurological diseases. My goal is to participate in the discovery of new genetic mutations and studying their molecular mechanisms. The ultimate goal is find cure for complex neurological diseases. Q4: The discovery of association between a gene and a specific disease is crucial for understanding of the molecular mechanisms AWARDS of a disease and how it can be treated in the future. This is especially important for diseases such as hereditary spastic paraplegia, which is extremely heterogeneous. We have identified a family with a mutation in mitochondrial protein ATAD3A. Molecular studies showed that mitochondrial networks and dynamics were severely disturbed. We show the association between ATAD3A and dominant HSP with intrafamiliar variability. With these findings and future INFORMATION studies into the protein, it will be useful for clinical diagnosis, for understanding the cellular mechanisms of this family of diseases and for potential future treatment.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 71 PROGRAMME POSTER AWARD FINALISTS

Dorien Baetens Hassan Abolhassani Ghent, Belgium Huddinge, Sweden

GENERAL Poster: P01.003C FOG2/ZFPM2 is a noval disease gene for pri- Poster: P07.01A Application of next mary ovarian insufficiency. generation sequencing in the con- Poster Session P01 Reproductive Genetics/Prenatal Genetics undrum of primary antibody defici- Presence at the poster: Monday, May 29, 2017, 10.15 - 11.15 hrs, Poster ency Area Poster Session P07 Immunology and he- matopoietic system Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster Area Stefan Barakat Rotterdam, Netherlands

SATURDAY Q1: 1986-09-17, Tehran, Iran Q2: PhD student of Clinical Immunology Poster: P17.02B Functional dissection Q3: Genetic diagnosis of patients with inborn immune disorders of the enhancer network in human is currently “Achilles Heel” in the field of clinical immunology and embryonic stem cells by ChIP-STARR- more than 80% of molecular defects underlying these phenotypes seq are unknown. This process is also necessary for targeted therapy Poster Session P17 Epigenetics and Gene and family consulting and long term prognosis estimation. Regulation Q4: After more than 15 years comprehensive clinical, immunolo- Presence at the poster: Sunday, May 28, 2017, 16.45 - 17.45 hrs, Poster Area

SUNDAY gic and basic studies in the field of primary antibody deficiency we have developed the most efficient and successful pipeline in the genetic diagnosis of these patients identifying approximately 80% Q1: 25-05-1984, Meerbusch, Germany of the pathogenesis. Q2: Postdoc Q3: I have Always been interested in mechanisms of disease, and during my Medical training, I was fascinated by genetics. After doing a PhD in epigenetics on X inactivation, I wanted to learn Rodrigo Almeida more about gene regulation by non-coding elements, and there- Curitiba, Brazil fore I have continued my postdoctoral research in that area, using embryonic stem cells as a model system Poster: P12.001A Integrative approach MONDAY Q4: Although most of the genome is non-coding, it still very hard and eQTL analysis identify breast can- to predict those non-coding elements that are functional. The work cer risk genetic variants affecting mi- presented here established a novel, quantitative and genome-wide croRNA binding sites. approach to identify functional enhancers, by combining chroma- Poster Session P12 Cancer genetics tin-immunoprecipitation with a massively-parallel-reporter-assay. Presence at the poster: Sunday, May 28, This yielded novel information about the characteristics of functio- 2017, 10.15 - 11.15 hrs, Poster Area nal enhancers, which might be usefull to extrapolate to other areas of genetics to further crack the non-coding genome code Q1: 09/11/1980 Bom Jesus da Lapa, Bra-

TUESDAY zil Q2: Currently I‘m a postdoc research in the Molecular Epidemiolo- gy Department at the Leiden University Medical Center. Renata Bordeira-Carriço Q3: For me genetics is one of the most exciting field of out time. I Porto, Portugal choose a career in genetics because I liked the idea to understand one of the most fundamentals discipline in biology. Besides, there Poster: P17.03C Unveiling the regula- are numerous opportunities in the field. tory landscapes of genes involved in Q4: In this „Big Data Era“, I‘ll present a data integration approach pancreatic cancer using a zebrafish that shows how to interpreted non-coding genetic variants asso- model ciate to breast cancer, which can regulate microRNAs target genes Poster Session P17 Epigenetics and Gene SATELLITES expression. Therefore, this variants could have an effect in the de- Regulation velopment of the disease. Presence at the poster: Monday, May 29, 2017, 10.15 - 11.15 hrs, Poster Area

Anna Babayan Q1: 29-10-1982 Lisbon Hamburg, Germany Q2: Post-doctoral researcher at Vertebrate Development and Rege- neration Group at I3S/IBMC, Porto, Portugal Poster: P12.002B Dissecting cancer evolution by liquid biopsy Q3: I see the future of Medicine lying on Genetics, since is the basis of biological systems, and a vast majority of diseases is caused by AWARDS and single cell genomic interrogation Poster Session P12 Cancer genetics genetic alterations. By understanding the genetic basis of disease Presence at the poster: Sunday, May 28, 2017, 16.45 - 17.45 hrs, Poster we can develop more specific and effective tools to prevent disease Area and to treat patients in a more personalized manner. Q4: Genetic research in disease has been focusing mostly in gene coding sequence. However, cis-regulatory elements(CREs), required for proper gene expression, can have a detrimental impact on disease when mutated. We are interested in exploring the role of these elements in the proper expression/function of cancer-related genes and their contribution to pancreatic cancer development. CREs might constitute new susceptibility alleles and/or potential thera- INFORMATION peutic targets, with important impact on clinical management.

72 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME POSTER AWARD FINALISTS GENERAL Simeon Boyadjiev Henrike Heyne Sacramento, United States Leipzig, Germany Poster: P04.04D Chemical modulation of Hedghehog signaling Poster: P09.004D Elucidating the spec- in the abnormal osteogenic niche of non-syndromic craniosyn- trum of protein-altering de novovari- ostosis ants in neurodevelopmental disorders Poster Session P04 Skeletal, connective tissue, ectodermal and skin with epilepsy

disorders SATURDAY Poster Session P09 Neurogenetic and Presence at the poster: Monday, May 29, 2017, 16.45 - 17.45 hrs, Poster psychiatric disorders Area Presence at the poster: Monday, May 29, 2017, 16.45 - 17.45 hrs, Poster Area Gerarda Cappuccio Q1: 24th September 1986, Berlin (Germany) Naples, Italy Q2: postdoctoral research fellow mentored by Mark Daly Poster: P09.002B Global metabolomic profiling unravels meta- Analytical Translational Genetics Unit, Massachusetts General bolite perturbations in Rett syndrome

Hospital (Boston, USA) / Broad Institute of Harvard and MIT (Cam- SUNDAY Poster Session P09 Neurogenetic and psychiatric disorders bridge, USA) Presence at the poster: Sunday, May 28, 2017, 16.45 - 17.45 hrs, Poster Q3: In human genetics as a relatively young medical discipline, Area research and clinical application are tightly linked. It is exciting to work in such a quickly evolving field. Q4: Our study provides the first comprehensive picture of the ge- Alexis Cooper netic architecture of neurodevelopmental disorders with epilepsy Mainz, Germany and will likely substantially impact clinical definitions of epilepsy entities as well as design of diagnostic testing applications. Poster: P17.01A Characterization of the MONDAY expression of the imprinted Kcnk9- gene in specific brain regions and the Louiza Kalokairinou phenotypic analysis of Kcnk9-knock- Leuven, Belgium out mice Concurrent Session P17 Epigenetics and Poster: P20.01A Regulation of direct-to-consumer genetic te- Gene Regulation sting in Europe: a fragmented landscape Presence at the poster: Sunday, May 28, Poster Session P20 Psychological/Ethical/legal issues 2017, 10.15 - 11.15 hrs, Poster Area and in Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster the concurrent session C03 Best Posters Session, Saturday, May 27, Area TUESDAY 18.30-20.00 hrs, Cannes

Q1: 27.11.1985, Fort Riley, Kansas, USA Laura Kasak Q2: Doctoral student in Molecular Human Genetics, Institute of Tartu, Estonia Human Genetics, Mainz, Germany Q3: We are all driven by the same questions: Who are we, where did Poster: P01.001A Copy number variati- we come from and how are we still alive? We want to decipher the on profile in the placental and paren- code of life and the mechanisms of disease. A research career in this tal genomes of recurrent pregnancy field is fascinating, illuminating and so rewarding. I am intrigued to SATELLITES loss families find out how our environment shapes us within our epigenetics Concurrent Session P01 Reproductive Ge- and how novel techniques will assist us in the process. netics/Prenatal Genetics Q4: Do not underestimate epigenetics. The research I am presen- Presence at the poster: Sunday, May 28, ting provides an epigenetic resolution underlying the mechanism 2017, 10.15 - 11.15 hrs, Poster Area and and elucidation of the Birk-Barel mental retardation dysmorphism in the concurrent session C03 Best Posters syndrome. Our epigenetic drug administration in mice show a pro- Session, Saturday, May 27, 18.30-20.00 hrs, Cannes mising approach for the treatment of the disease. Q1: 30.12.1987 Tartu, Estonia

Q2: I am currently a final year PhD student at the Institute of Mole- AWARDS Annelies De Jaegher cular and Cell Biology, Universtity of Tartu, Estonia. Ghent, Belgium Q3: Since the first year of my undergraduate studies I was fascinated with human genetics. Fortunately, I was soon welcomed at Poster: P14.001A A next-generation sequencing approach tar- the human molecular genetics research group of Professor Maris geting the highly repetitive ORF15 region of RPGR improves Laan. One of our interests is the placental genome structure and molecular diagnostics of X-linked retinitis pigmentosa function in successful and complicated pregnancies. Placenta is Poster Session P14 New diagnostic approaches, technical aspects & a highly complex and astounding organ to study in the genetics quality control INFORMATION point of view. Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster Q4: We have recently shown an extensive load of somatic copy Area number variations (CNVs) in the human placental genome with the highest fraction detected in normal term pregnancies. In the current study we hypothesized that insufficient promotion of CNVs may impair placental development and lead to recurrent pregnancy loss. Our results may have a number of perspective implications and suggest that early placental development may need a burst of ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 73 PROGRAMME POSTER AWARD FINALISTS

somatic genomic rearrangements to guarantee active proliferati- disease with the ultimate goal to discovery novel diagnostic mar- on, migration and invasion of trophoblasts. kers and new therapeutic targets. Q4: The research I am presenting at the conference used gene-

GENERAL tic analyses, whole genome linkage analysis and whole exome Svenja Kohler sequencing, to identify candidate genetic modifiers. Functional Lübeck, Germany analysis were performed to characterize the mechanisms leading to alteration of the disease.This study is one among the few that Poster: P10.01A Col6A2 p.G283E: antisense-induced mRNA identified the mechanism of disease modifications by genetic fac- knockdown as a possible treatment strategy tors in human. Identifying disease modifiers may enable the ac- Poster Session P10 Neuromuscular disorders curate prediction of disease progression and improve therapeutic Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster development. Area SATURDAY Q1: 18.06.1993 Rodalben Anna Morgan Q2: MD student Trieste, Italy

Poster: P02.01A Next Generation Sequencing (NGS) followed Janine Milbradt by in vitro and in vivofunctional studies revealed new genes for Cologne, Germany both Hereditary (HHL) and Age Related Hearing Loss (ARHL). Poster Session P02 Sensory disorders (eye, ear, pain) Poster: P04.02B Plastin 3 regulates Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster SUNDAY bone development and maintenance Area through the NFκB pathway in osteoclasts Q1: 22/10/1988, Conegliano (TV), Italy Concurrent Session P04 Skeletal, connecti- Q2: Post Doc at the Department of Medicine, Surgery and Health ve tissue, ectodermal and skin disorders Sciences, University of Trieste. Presence at the poster: Sunday, May 28, Q3: Since my first Genetics course during University, I started reali- 2017, 16.45 - 17.45 hrs, Poster Area and zing how Genetics contribute to many aspects of human life. This in the concurrent session C03 Best Posters intuition prompted me to dedicate my research activity to this Session, Saturday, May 27, 18.30-20.00 hrs, Cannes field. In particular, I am interested in uncovering the molecular me- MONDAY chanisms leading to genetic diseases and in understanding the link Q1: 20.10.1984 in Berlin, Germany between DNA mutations and human phenotypes. Q2: PhD student at the Institute of Human Genetics in Cologne (RG Q4: My work focuses on the study of both monogenic and complex BProf. Dr. Brunhilde Wirth) forms of hearing loss (HL). HL is the most common sensory disor- Q3: I was specifically interested in human genetics because i wan- der in human and, despite the numerous advances in sequencing ted to produce valuable data that could be beneficial one day for technologies, it is not always possible to reach a clear molecular the treatment of various diseases affecting people worldwide. diagnosis. The aim of my research project is to identify new HL- Q4: We found a novel protein interaction affecting the NFkB pa- genes, thus helping in understanding the biology of the hearing thway which could not only have importance for therapeutic system and providing hints for new therapeutic approaches. TUESDAY aspects in osteoporosis, but may also have crucial impact on other areas in human genetics, for example immunologic or neurologic dieseases. Lam Son Nguyen Paris, France

Antonino Montalbano Poster: P09.003C Role of miR-146a in Heidelberg, Germany the differentiation and neural linea- ge identity determination of human Poster: P04.03C Retinoic acid cataboli- neural stem cells: relevance for autism

SATELLITES zing enzyme CYP26C1 is a genetic mo- spectrum disorders difier in SHOX deficiency Poster Session P09 Neurogenetic and Concurrent Session P04 Skeletal, connecti- psychiatric disorders ve tissue, ectodermal and skin disorders Presence at the poster: Monday, May 29, Presence at the poster: Monday, May 29, 2017, 10.15 - 11.15 hrs, Poster Area 2017, 10.15 - 11.15 hrs, Poster Area and in the concurrent session C03 Best Posters Q1: 9th April 1984 Session, Saturday, May 27, 18.30-20.00 hrs, Cannes Ho Chi Minh City, Vietnam AWARDS Q2: Post-doctoral Researcher Q1: 24/06/1986, Palermo Q3: I choose a career in genetics because there is few therapy avai- Q2: Postdoc at Prof. Neville Sanjana´s lab, New York Genome Center lable currently for genetic disorders, especially for brain disorders. I and New York University, New York, USA. believe that I can make a change. Q3: It is a very exciting time to be a geneticist. Reduction of the se- Q4: My work explores the contribution of an epigenetic factor, na- quencing costs is leading to the generation of increasing amounts mely microRNA, in neurodevelopmental disorders. This work is in- of data that need to be analyzed. There is an urgent need of new teresting because it demonstrates a causative role of microRNA in generation scientists able to work with those data to understand these diseases. More importantly, treatment with synthetic miRNA how changes in DNA sequences can lead to disease. I want to be constructs by nasal spray has been proven to successfully reverse part of the new generation of scientists, able to combine genetics, disease symptom in rat models. This brings treatment for genetic INFORMATION bioinformatics, and wet lab experiments to unravel mechanisms of brain disorders one step closer to reality.

74 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME POSTER AWARD FINALISTS GENERAL Ron Nudel Sonika Rathi Roskilde, Denmark Hyderabad, India Poster: P16.01A GeneHancer: Genome-wide integration and Poster: P13.01A Molecular genetic and scoring of enhancers and target genes in GeneCards functional analysis indicate novel ge- Poster Session P16 Omics/Bioinformatics nes involvement in retinopathy of pre- Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster maturity

Area SATURDAY Poster Session P13 Basic mechanisms in molecular and cytogenetics Presence at the poster: Sunday, May 28, Manon Oud 2017, 10.15 - 11.15 hrs, Poster Area Nijmegen, Netherlands Q1: 29/04/1984, Indore , India Poster: P01.002B Validation and appli- Q2: Research Associate cation of a novel integrated genetic Q3: From my higher education I found genetics very interesting screening method to a cohort of 1,112 and logical. I realized genetics is the background of most of the men with idiopathic azoospermia or

biomedical Research. SUNDAY severe oligozoospermia Q4:The genetics involvement in ROP is not clear till now. My re- Poster Session P01 Reproductive Genetics/ search not only identified novel genes in ROP pathogenesis but Prenatal Genetics also whole mechanism and finally biomarkers which can be used Presence at the poster: Sunday, May 28, for the progression of the diseases. 2017, 16.45 - 17.45 hrs, Poster Area

Q1: 12-09-1992, Nijmegen Neus Roca-Ayats Q2: PhD student Barcelona, Spain Q3: I have been fascinated by DNA ever since I visited a Science MONDAY Museum in Amsterdam as a child. The fascination only grew during Poster: P15.01A A GGPS1 mutation my Biology studies and I decided to learn more by doing a PhD in found by WES in three sisters with genetics. bisphosphonate-associated atypical Q4: Our study shows that it is possible to consolidate the detec- femoral fractures tion of different types of genetic variation causing male infertility Poster Session P15 Personalized/Predictive while increasing the diagnostic yield and detection precision at the Medicine and Pharmacogenomics same or lower price compared to currently used methods. This can Presence at the poster: Sunday, May 28, greatly help both research and diagnostics in the field of male in- 2017, 10.15 - 11.15 hrs, Poster Area fertility. TUESDAY Q1: 24th January 1991, Vic (Spain) Q2: PhD student at the University of Barcelona Gundula Povysil Q3: I got fascinated by Genetics during my studies in Biochemistry, Linz, Austria although it had already caught my attention before. I am interested in how life works at molecular level and in deciphering the mecha- Poster: P16.03C panelcn.MOPS: CNV nisms that underlie diseases. Genetics is a multidisciplinary field detection in targeted NGS panel data that evolves a lot, which make it challenging and enable me to for clinical diagnostics learn continuously. SATELLITES Poster Session P16 Omics/Bioinformatics Q4: Atypical femoral fractures (AFFs) are a rare but devastating Presence at the poster: Monday, May 29, type of fracture possibly associated with long-term bisphosphona- 2017, 10.15 - 11.15 hrs, Poster Area te (BP) therapy, the main treatment for osteoporosis and cancer- related bone disease. This is the first WES performed in AFF pati- Q1: 18.08.1986, Linz ents and a novel mutation in GGPS1 was identified, which totally Q2: PhD Student at the Institute of Bioin- impairs its function. The encoded enzyme, GGPPS, is involved in formatics, Johannes Kepler University Linz the mevalonate pathway and it is known to be inhibited by BPs. Q3: I was always fascinated by the fact that small changes in our This study opens the door to risk assessment tools to personalize DNA have huge impacts on our lives. With a career in genetics I can the therapy.

not only find out where we come from or why a person is ill, but AWARDS also work towards a way to cure people or prevent illness. Q4: We developed a pipeline for detecting CNVs in targeted NGS Lara Rodriguez Laguna panel data that is not only superior in terms of sensitivity and spe- Madrid, Spain cificity, but also avoids incidental findings and can readily be used via a GUI by clinical geneticists without programming experience, Poster: P11.001A Somatic acti- or integrated as R package into existing variant detection pipe- vating PIK3CA mutations cause CLA- lines PO syndrome INFORMATION Poster Session P11 Multiple Malformation/ anomalies syndromes Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster Area

Q1: May, 18th 1989, Madrid, Spain. Q2: PhD student. Q3: My vocation for genetics arises from my curiosity and passion ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 75 PROGRAMME POSTER AWARD FINALISTS

for medicine, diseases and technology. Having the chance to gain Genetic counselors, unlike most women who take prenatal dia- knowledge in the natural development and evolution of diseases, gnostic tests, are both highly knowledgeable about the various and being able to apply it to patients, was what lead me to choose outcomes of genetic tests, and trained in statistics and concepts of

GENERAL genetics as my professional career. probability. They are also a unique group in the sense that they do Q4: This paper describes for the first time the genetic cause of a rare not oppose the selection of future generations on the basis of their disease of which there was little knowledge. In addition, since the health prospects, as this is their professional practice. Moreover, work includes this syndrome as a part of a larger known spectrum, their practice overexposes them to genetic anomalies and risk. the existing knowledge regarding future possibilities of treatment, Based on their specific features, it can be argued that pregnant ge- pathogenic mechanism and counselling with reproductive intenti- netic counselors are highly capable of making informed decisions ons, it is automatically applied to CLAPO syndrome improving its as to which tests, and which test results, they wish to receive during personalized advice. Finally by working in a hospital service, I could their own pregnancies. Yet it is not clear whether they would be personally observe the importance for patients and their families early adopters of new technologies, or prefer to practice caution, to have a specific diagnosis after years of uncertainty and anxiety. since they encounter in their work both the advantages and disad- SATURDAY vantages of advanced genomic testing. The novelty of our study is that it adds to the existing literature, Francesco Russo which has focused either on medical experts’ professional views, Copenhagen, Denmark or on public preferences and experience, by shedding light on the actions of professionals as patients. Poster: P16.02B Comorbidity landscape of the Danish patient population affected by chromosomal abnormali- Arthur Sorlin SUNDAY ties Dijon, France Poster Session P16 Omics/Bioinformatics Presence at the poster: Sunday, May 28, Poster: P04.01A Postzygotic dominant- 2017, 16.45 - 17.45 hrs, Poster Area negative mutations of RHOAcause a mosaic neuroectodermal syndrome Q1: September 20, 1985, Catania (Italy) Concurrent Session P04 Skeletal, connecti- Q2: PhD student at Novo Nordisk Foundation Center for Protein Re- ve tissue, ectodermal and skin disorders search, University of Copenhagen Presence at the poster: Sunday, May 28, Q3: I am a molecular biologist and genetics is a new field for me. I 2017, 10.15 - 11.15 hrs, Poster Area and MONDAY started around one year ago studying the Klinefelter Syndrome, an in the concurrent session C03 Best Posters opportunity to learn more about complex diseases. It was love at Session, Saturday, May 27, 18.30-20.00 hrs, first sight! After few months our work was accepted for publication. Cannes A great recognition! I hope to work more in this field and hopefully help people with my little contribution. Q1: 28/09/1988, Firminy (France) Q4: My research presents a comprehensive epidemiological study Q2: PhD student and medical geneticist in training of the entire Danish population affected by chromosomal abnor- Q3: As a medical doctor, genetics is a fascinating field to work in, as malities. We have unique data consisting of the national patient it deals with cutting-edge science, precision medicine, and major registry which includes 6.9 million patients. We discovered more ethical questions. I am convinced that advances in genetics will sha- TUESDAY than 9,000 patients affected by chromosomal abnormalities and pe the medicine of tomorrow, and will highly improve patients’ life. we found specific comorbidities for each chromosomal abnormali- Q4: Using next generation sequencing, we identified the cause of ty but also interesting overlaps between diseases. a recognizable, previously undescribed mosaic syndrome. We reported the first gene firmly associated with hypomelanosis of Ito. Contrary to other mosaic syndromes, caused by activating mutati- Shiri Shkedi-Rafid ons, we demonstrated that our variants have a dominant-negative Jerusalem, Israel effect, providing a new mechanism for lethal mutations surviving only by mosaicism. Poster: P19.02B Pregnant genetic

SATELLITES counselors in the era of advanced genomic tests: What do the experts test Sanne van der Steen prenatally? Rotterdam, Netherlands Poster Session P19 Genetic counselling/ Education/public services Poster: P19.01A Reconciling non-directivity and the counselors‘ Presence at the poster: Sunday, May 28, preference in prenatal counseling 2017, 16.45 - 17.45 hrs, Poster Area Concurrent Session P19 Genetic counselling/Education/public services Q1: 18 March 1975, Jerusalem, Israel Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster AWARDS Q2: Genetic counselor at the Center for Clinical Genetics, Hadassah Area and in the concurrent session C03 Best Posters Session, Saturday, Hebrew University Medical Center May 27, 18.30-20.00 hrs, Cannes Director, MsC program in genetic counseling. Faculty of Medicine, the Hebrew University of Jerusalem Q1: 4-02-1989, The Hague, Netherlands Q3: Genetic counseling is a unique multidisciplinary field. I was fa- Q2: PhD Candidate scinated by the combination of human interaction, never ending Q3: As a psychologist, my interest for people goes further than the learning , and by the many research opportunities. science of the brain; I am fascinated by the building blocks of hu- Q4: It has frequently been argued that knowledge and probabili- mankind. stic/statistical understanding are essential to allowing pregnant Q4: In my presentation I will reveal how the counselors' own prefe- women to make sound, informed decisions about which genetic rence for a test influences the patients' choice, putting the concept INFORMATION tests to perform during pregnancy. of non-directivity in genetic counseling in a new light.

76 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG PROGRAMME POSTER AWARD FINALISTS GENERAL Tessa van Dijk Amsterdam, Netherlands

Poster: P09.001A Mutations in CoA Synthase cause pontocerebellar hypoplasia Concurrent Session P09 Neurogenetic and psychiatric disorders Presence at the poster: Sunday, May 28, 2017, 10.15 - 11.15 hrs, Poster

Area and in the concurrent session C03 Best Posters Session, Saturday, SATURDAY May 27, 18.30-20.00 hrs, Cannes

Roel Wouters Utrecht, Netherlands

Poster: P20.02B A duty to hunt for pathogenic mutations? Ethical conside- rations regarding routine screening of genomic data SUNDAY Poster Session P20 Psychological/Ethical/ legal issues Presence at the poster: Sunday, May 28, 2017, 16.45 - 17.45 hrs, Poster Area

Q1: 17 February 1991 in Heerlen, The Netherlands Q2: I am a PhD candidate in medical ethics, focussing on the responsible introduction of next generation sequencing in oncolo- MONDAY gy. Q3: I think that genetics, as one of the cornerstones of personalized medicine, has the potential to fundamentally change the way we organize health care in the 21st century. As a young medical doctor, I expect that these developments in genetics will enable me to offer my future patients better treatment options. Q4: I present an ethical analysis on the question as to whether geneticists should routinely screen genomic sequencing data for a list of pathogenic mutations (also referred to as a duty to hunt). TUESDAY This research provides insights that are relevant for a lot of professionals who are confronted with large quantities of data but ask which parts of these data should be analyzed.

Shachar Zuckerman Jerusalem, Israel

Poster: P19.03C Reproductive experiences, medical concerns SATELLITES and moral attitudes among preimplantation genetic diagnosis (PGD) users: Synthesis of qualitative and quantitative analysis Poster Session P19 Genetic counselling/Education/public services Presence at the poster: Monday, May 29, 2017, 10.15 - 11.15 hrs, Poster Area AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 77 GENERAL

INFORMATION GENERAL INFORMATION REGISTRATION FEES NETWORKING EVENTS CORPORATE EXHIBITION

INFORMATION 78 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG INFORMATION GENERAL INFORMATION GENERAL Registration and Opening Hours

Opening Hours Registration and Preview Centre Friday, May 26 14.00 – 19.00 hrs Saturday, May 27 07.30 – 20.15 hrs Sunday, May 28 08.00 – 19.30 hrs Monday, May 29 08.00 – 19.30 hrs

Tuesday, May 30 08.30 – 14.00 hrs SATURDAY

Opening Hours Exhibition Friday, May 26 CLOSED! Saturday, May 27 09.30 – 18.30 hrs Sunday, May 28 09.00 – 17.45 hrs Monday, May 29 09.00 – 17.45 hrs Tuesday, May 30 CLOSED!

Badges Participants should collect name badges from the conference registration desk. As only registered participants will be permitted to attend SUNDAY the scientific sessions, the exhibition and poster areas, you are required to wear your badge when entering and while remaining in the congress venue. Accompanying persons and exhibitors will also receive badges to allow access to the appropriate areas. Lost badges can be replaced at the registration desk. However, a handling fee of EURO 25.- will be charged.

Cancellations and Refunds Notice of cancellation had to be made in writing by email or fax to the Congress Office. The policy for refunding registration fees is as follows: MONDAY Written cancellation received: – before April 1, 2017: 75% refund – between April 1 and May 7, 2017: 25% refund – after May 7, 2017: no refund The date of the email/fax ID is the basis for considering refunds. Refunds will be made after the congress.

Certificate of Attendance Certificates of attendance will be issued at the registration desk. TUESDAY Insurance By registering to the ESHG 2017 participants agree that neither the organising committee nor the congress office assume any liability whatsoever. Participants are requested to make their own arrangements for health and travel insurance. The conference fee does not include insurance.

Programme

MobileApp SATELLITES The "ESHG 2017 Congress" mobile app with full programme and other useful information is available for download in your App- or Playstore.

Speakers’ Preview Equipment for a final check of the sequence of your presentation is available in the Speakers’ preview in the Preview Room (ground floor). All presenters should bring their electronic presentation to the Speakers’ preview not later than 2 hours before the start of the session (30 minutes for the first morning sessions).

Poster Removal The organisers cannot assume any liability for loss or damage of posters displayed in the poster area. Removal times for the different groups:

Groups A-C: Monday, May 29, 2017 from 16:45 hrs AWARDS Group D: Monday, May 29, 2017: 17:45 – 18:00 hrs (strict!) Posters that will not be removed by Monday, May 29, 2017, 18.00 hrs, will be removed by the staff, will not be kept or mailed to the author after the meeting, but will be discarded.

Live Streaming in the Exhibition Hall The plenary lecture hall is equipped with a live transmission possibility to the Live stream area in the exhibition. The programme of the room Aarhus will be transmitted to this area during exhibition opening hours. INFORMATION

Coffee Breaks During the session breaks, refreshments (coffee, tea and water) will be served free of charge to participants wearing name badges. Coffee and lunch bags will be served in the exhibition area.

Lunch and Refreshments Lunch tickets for lunch boxes had to be pre-ordered – they cannot be purchased on site. Please note that lunch tickets are not refundable. Lunch boxes can be picked up from 11.30 – 13.30 at the coffee points in the exhibition. A cash bar is also available in the exhibition area.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 79 INFORMATION GENERAL INFORMATION Venue

Conference Venue

GENERAL BCC – Bella Center Copenhagen Center Blvd. 5 2300 Copenhagen S, Denmark

Travelling – Accessibility – Public Transportation From the Airport By taxi – journey time 10 minutes You can find taxi stands just outside terminal 3. The trip by taxi from Copenhagen Airport to the BCC takes approximately 10 minutes depending on traffic. It costs between DKK 150 and DKK 200 (EUR 20 – EUR 27 ). SATURDAY By bus – journey time 15 minutes The Airport shuttle service operates every 30 minutes between 6am and 11pm and runs between Copenhagen Airport and the BCC-hotels, AC Hotel Bella Sky Copenhagen (which is directly connected to Bella Center Copenhagen) and Crowne Plaza Copenhagen Towers. You can find the schedule on the following website It costs DKK 15 (EUR 2) each way (to be paid at check-in / check-out at the hotel receptions) and the fifteen seats are filled on a first come, first served principle. At the airport information desk you will find the hotel’s iPad with a guide to the shuttle parking spot by Terminal 2 from where you can get on the bus. When departing the hotel you order the shuttlebus in the hotel reception.

SUNDAY By train and metro – journey time 30 min Regional trains also run from the airport to Ørestad Station. Then you can either walk or take the metro (1 stop in direction Vanløse) and walk to the Bella Center from there. To the city

By Metro – journey time 15 min If you take the metro, the center of Copenhagen is just a few minutes away. The Metro line M1 runs between Vanløse and Vestamager. The metro station “Bella Center” is located by Bella Center’s east entrance.

MONDAY ESHG 2017 is pleased to offer participants with a a reduced Travel Pass for the conference. Unlimited Public Transportation by Bus, Train and Metro. The Travel Pass offers unlimited public transportation in all of Greater Copenhagen. Get it here and receive it as an e-mail and an SMS ticket on your mobile phone. Advantages • Get the ticket online and make use of the public transportation the moment you arrive in the city • Airport to city transportation included • Easy online ordering Notice: This offer is only valid for online ordering and requires a minimum of 2 days How to use TUESDAY You do not need to show your ticket (e-mail or SMS) before entering Bus, Train or Metro, but you need to have your ticket available for control checks. http://www.travelpass.dk/conferences/eshg-2017/

Car Parking There is a parking lot right in front of the conference venue.

Cloakroom and Luggage A cloakroom and luggage storage are available close to the registration area. SATELLITES WIFI WiFi is available throughout the conference venue. Network ID: eshg2017, password: eshg2017

Staff If you should have any questions, the congress staff (recognizable by a pink lanyard and the usual black polos) will be pleased to help you.

Conference Policy

AWARDS IMPORTANT NOTICE: Please note that taking pictures or filming during the sessions is forbidden (no matter if done with a camera or a mobile phone). Persons who will not observe this rule will be excluded from the session by the chairpersons.

Language The official language of the congress will be English (no simultaneous translation).

Smoking Policy The ESHG 2017 is officially a “No-smoking" Conference. Note that smoking is banned in public buildings and private businesses – including restaurants, pubs, shops, public transport, entertainment venues and workplaces. The only exception from the ban is for establishments with an area less than 40 square metres, which do not serve fresh food. INFORMATION

80 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG INFORMATION GENERAL INFORMATION GENERAL Social Media Guidelines The ESHG supports the use of social media around the European Human Genetics Conference to network with your colleagues and friends attending the meeting. Please do however respect the ESHG social media guidelines. The views and opinions posted on ESHG’s social media do not necessarily reflect the views, opinions, or policies of the ESHG, its Board or membership. The ESHG reserves the right to remove comments it deems to be inappropriate.

Movements of Attendees - Improving your future experience SATURDAY The ESHG is excited about new technologies, especially those enabling us to evaluate and improve the quality and overall experience of the ESHG Conference.

As part of this continuing improvement, some participants will be asked to carry a small pendant. These little tags will allow us to refine our services for the ESHG Conference 2018 in Milan and ensure your needs are fully met.

The magic of counting The tags enable us to understand the attractiveness of lectures and certain activities during the conference. They simply count visited areas

– that’s it. SUNDAY

Don’t worry and enjoy the conference The counting process in the background works via blutooth receptors without collecting any sort of personal information – FULLY ANONYMOUSLY. Counting is only done within the lecture halls and the exhibition and poster area (not outside the conference centre) and is solely to improve future ESHG Conferences. And no, we will not be counting visits to the restaurant or the smoking area...

Why are we doing this? Identifying hot (or not so hot) topics, no matter if during lectures or in the poster area, will help us improve the planning of the programme and contribute to avoiding crowded (or empty) lecture halls in future venues. MONDAY

Please return the tag! We kindly ask you to RECYCLE the tag in one of the collection boxes when you exit the congress for the last time, as they will be reused. Thank you very much for your support and enjoy the conference!

Copenhagen – General Information

Bank services – Money matters Banks are generally open from Monday to Friday from 09:00 – 17:00, on Thursdays until approximately 18:00 (closed on Saturdays and TUESDAY Sundays). There are multiple bank machines (ATMs) open 24 hours a day throughout the city which accept all major international bankcard. The official currency of Denmark is the Danish Krone (DKK). Major credit cards are widely accepted, but please always check beforehand. When paying by credit card for your shopping, you will be asked to show identification. Please bring your PIN code and have an ID with you all the time, otherwise they may refuse to accept your credit card as payment. Travel checks and Euro cheques can be cashed at a fee in most of the banks.

Currency

The official currency in Denmark is the Danish Krone (DKK). SATELLITES 1 DKK = 0,13 EUR = 0,12 GBP = 0,14 USD = 0,19 CAD = 16,22 JPY = ,14 CHF = 0,19 AUD as per date of printing.

V.A.T. The VAT rate in Denmark is 25%.

Emergency Services European Emergency Number: 112

Pharmacies – Medical Emergencies AWARDS Regular pharmacy opening hours are weekdays from 9.00-17:00 hrs. Obviously a number of pharmacies is open 24/7. A list of 24-hour pharmacies and Emergency Hospitals can be found here.

Safety – Crime Copenhagen remains a relatively safe, secure city. However, use of common sense is (always) required, as in any large city. Experience has shown that some basic precautionary measures should always be kept in mind in any city: – Do not carry important items like flight tickets, passports etc. with you when visiting the conference or strolling through the city, leave them in the hotel safe during your stay. Rather carry a Xerox copy of your passport or an identity card with you. INFORMATION – Try not to carry all documents, money, credit cards and other essential items and valuables in one bag or purse. If it is lost or stolen, everything will be gone and might be difficult to replace on short notice, especially passports and visa to return to your country of residence. – Take off your name badge when leaving the conference centre. – In heavily frequented tourist zones and the metro at rush hour, be aware of attemps of scam and pickpocketing. – Do not respond to anybody unknown to you who comes up to you on the street engaging you in a conversation, no matter how safe they appear to be.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 81 INFORMATION GENERAL INFORMATION

Telephone calls The country code of Denmark is 45. Denmark does not use city codes. To call abroad, dial 00 before the country code.

GENERAL GSM Cell Phone Roaming GSM cell/mobile phone roaming is available without any problems for all major international providers. It is advisable to inquire beforehand or online at your provider which roaming company in Denmark offers the cheapest tariffs.

Time Zone Copenhagen’s time zone is Central European Summer Time (CEST), GMT+2.

Climate The average temperatures end of May in Copenhagen are 16°C (high) and 7°C (low). The average number of rainy days is 14 with an average rainfall of 40 mm in May. SATURDAY Weather forecast for Copenhagen

Drinking water The tap water in Copenhagen can be used without concern.

Electricity Supply The power supply in Denmark is 220 V. Most electric outlets adhere to the continental standard (Schuko). Appliances from North America require a transformer and British ones an adaptor for the two-pin continental plugs in use in Denmark. SUNDAY Shops Shops in Copenhagen city centre are normally open as follows:

Monday – Thursday: 10:00 – 18:00 Friday: 10:00 – 19:00 Saturday: 10:00 – 16:00 Sunday: 12:00 – 16:00 All major credit cards are generally accepted. Some places might charge a fee when accepting foreign credit cards as payment. Note that

MONDAY you are usually required to show an ID when using your credit card.

Eating Out in Copenhagen One of the main characteristics of Copenhagen is its night life and gastronomy. You can choose among all kinds of restaurants for all price ranges. Copenhagen offers a wide range of food markets as well, where you can enjoy good, sustainable street food and drinks. The opening hours of bars, night clubs and discotheques vary, but tho most are usually open until 04:00 hours (some even longer). For further details on restaurants in Copenhagen, please visit their website.

Tipping TUESDAY Acording to Danish law, tips for waiters have to be included in the prices indicated in restaurants. However, opinions on tipping vary. Some sources say it is common to leave up to 10% to the waiter, if you are satisfied with the service. Others say, that it is not customary to tip at all, as wages are adequately high. Hence, you may choose to tip or not at your discretion.

Tourist Information Centres Copenhagen Visitor Service is situated Vesterbrogade 4, across the street from the main entrance to Tivoli Gardens and just around the corner from Copenhagen Central Station. Wonderful Copenhagen has a stand in the registration area, where you can get your free city map of Copenhagen and tips for your free time. SATELLITES

Download the ESHG 2017 Conference App

for iOS for Android AWARDS

INFORMATION

82 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG INFORMATION REGISTRATION FEES GENERAL

before from April 1 to after Registration fees Day tickets March 31, 2017 May 7, 2017 May 7, 2017 and Payment received: on site (reduced rate) (normal rate) on site ESHG Members EUR 300.- EUR 400.- EUR 450.- EUR 150.- Non-Members EUR 450.- EUR 550.- EUR 600.- EUR 200.- Postgraduate Trainees ESHG Members1 EUR 200.- EUR 300.- EUR 350.- EUR 125.- SATURDAY Postgraduate Trainees Non- Members1 EUR 300.- EUR 400.- EUR 450.- EUR 150.- Counsellors/Gen.Nurses ESHG Members2 EUR 200.- EUR 300.- EUR 350.- EUR 125.- Counsellors/Gen.Nurses Non-Members2 EUR 300.- EUR 400.- EUR 450.- EUR 150.- Students3 EUR 100.- EUR 150.- EUR 200.- EUR 100.- ESHG Members from underprivileged countries4 EUR 200.- EUR 200.- EUR 200.- EUR 125.- Non-Members from underprivileged countries4 EUR 250.- EUR 250.- EUR 250.- EUR 150.- Participants/Guests Students

Networking Evening at own expense EUR 55.- EUR 35.- SUNDAY 1Applies to MSc./PhD students working towards a degree in human genetics or an associated field. Please provide a confirmation signed by the head of department at the moment of your registration by fax to +43 1 407 82 74 or via email to conference(at)eshg.org. Confirmations handed in at a later stage cannot be considered. 2Applies to non-MD/PhD-Counsellors. 3Applies to undergraduate students. Please provide a copy of a Student’s ID or a confirmation signed by the head of department at the moment of your registration by fax to +43 1 407 82 74 or via email to [email protected]. Confirmations handed in at a later stage cannot be considered. 4Applies to a selected list of countries.

Please see also the General Terms & Conditions for participants: https://2017.eshg.org/index.php/general-terms-and-conditions MONDAY

What is covered by the registration fee?

Participants: Guests (family members only): • Admission to all scientific sessions, exhibition and networking • Access to the poster exhibition and the networking mixer (no mixer admission to scientific sessions!) TUESDAY • Printed programme and other conference material • Coffee/Tea during breaks from Saturday, May 27 to Tuesday, May 30

Payment of Registration fees may be made in cash in Euro or Danish Crowns or by credit/debit card (in Euro, we accept Diners Club, Mastercard, VISA, American Express and Maestro). SATELLITES Please note The reduced registration fee is only applicable, if it has also been paid to the congress account meeting the according deadlines. Registering without performing an actual payment will automatically set your balance to the fee applicable onsite.

Cancellations and Refunds Notice of cancellation had to be made in writing by email or fax to the Congress Office. The policy for refunding registration fees is as follows: Written cancellation received: - Before April 1, 2017: 75% refund

- Between April 1 and May 7, 2017: 25% refund AWARDS - After May 7, 2017: no refund

The cancellation will not be effective until a written acknowledgement from the ESHG Conference Registration Department is received. In the case of over-payment or double payment, refund requests must be made in writing and sent to the ESHG Conference Registration Department by email. No refunds will be granted for unattended events or early termination of attendance, in case of cancellation of speakers, lack of space in the conference room or any other incidents during the conference, which are beyond the control of the conference organisers. INFORMATION Participants are requested to make their own arrangements for health and travel insurance. The conference fee does not include insurance.

No exceptions to the refund policy can be made, including health or family issues, however, we welcome substitute delegates at any time. By registering to the ESHG 2017 participants agree that neither the organising committee nor the congress office assume any liability whatsoever. Participants are requested to make their own arrangements for health and travel insurance. The conference fee does not include insurance.

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 83 INFORMATION NETWORKING EVENTS Opening Networking Mixer

Saturday, May 27, 2017, 20.00 - 21.30 hrs - Bella Center, Centerhall

GENERAL Network with your colleagues at this mixer following the first group of concurrent sessions on Saturday evening. Drinks and small snacks will be offered. The networking mixer is free of charge, however admission is only possible for registered participants and registered guests.

ESHG Networking Party

Monday, May 29, 2017, 20.00 hrs - 0ksenhallen SATURDAY Join us for a party evening at the “0ksenhallen” with dancing, music entertainment. Entrance fees include food, drinks, (non alcoholic, beer or wine), music entertainment.

Ticket: EUR 55.- Students: EUR 35.-

Please note that only a limited number of tickets can be purchased on a first-come-first-served basis at the onsite registration desk.

SUNDAY Tickets will be checked at the entrance. There will be strictly no access without the entrance ticket!

Individual arrival and departure, no transfers are provided. MONDAY INFORMATION LIST OF EXHIBITORS The 100,000 Genomes Project 770 Devyser 538 Indywidualna Praktyka Lekarska PerkinElmer 574 10x Genomics 176 Diagenode 345 Anna Latos-Bielenska 780 Phenosystems 170 IVI (LLC) 780 DNA Genotek 128 JSI medical systems 242 Platomics 254 ADS Biotec 276 ECARUCA 349 Katarzyna Błochowiak Dental Surgery 780 Premaitha Health 536 Advanced Analytical 562 EGL Genetics 474 Kawsar Biotech 522 PreventionGenetics 730 Agilent Technologies 632 Elucigene Diagnostics 268 KolGene 462 Progeny Genetics 322 Andrew Alliance 534 EMQN 378 Lexogen 460 Promega Corporation 570 TUESDAY ASHG 264 Enzo Life Sciences 126 Leymus Genomics 266 QIAGEN 540 Asuragen 228 Eppendorf Nordic 644 LGC 526 Qlucore 282 BD Genomics 640 ESHG 238 Life & Brain 246 Randox Biosciences 358 Beckman Coulter 352 Exiqon 258 Life & Soft 722 RBC Bioscience 174 BGI 420 Fabric Genomics 286 Limbus Medical Technologies 752 Reference Laboratory Genetics 524 bio.logis Genetic FDNA - Face2Gene 366 Macrogen 774 Repositive 732 Information Management 226 Formulatrix 256 Mawi DNA Technologies 432 Roche Sequencing Solutions 430 Bio Molecular Systems 566 Frontiers 310 MDPI 720 Saphetor 560 BioDiscovery 124 Fulgent Diagnostics 190 MédiFirst 340 SeraCare Life Sciences 180 BIOKÉ 362 Fundacja Edukacja Plus & MEDIREX 348 Sistemas Genómicos 370 Bioline Reagents 648 X-gen.pl & DRBARBARA.EU 780 Menarini Silicon Biosystems 274 SoftGenetics 362 SATELLITES Biomatrica 754 GATC Biotech 292 Metabolon 476 Sony Biotechnology 270 BioMed Central 332 GENALICE 260 Molecular Biology Systems 580 Sophia Genetics 620 Bionano Genomics 210 GeneConsult 380 MRC-Holland 660 Springer Nature 334 BioProcessing Solutions 346 GENEWIZ 172 Multiplicom 662 Springer Nature 342 Bluebee 330 Genial Genetics 382 NanoString Technologies 372 Swift Biosciences 530 Blueprint Genetics 626 Genohm 272 Natera 356 Takara Bio 278 Canon BioMedical 120 Genome Diagnostics Nijmegen 666 Nature - see Springer Nature 334 Taylor & Francis 284 CeGaT 338 Genome.One 724 New England Biolabs 364 TECHNIDATA 436 CELEMICS 374 GenomeScan 532 NimaGen 584 Theragen Etex 568

AWARDS The Centers for Medical Genomic Vision 188 NIPD Genetics 426 Thermo Fisher Scientific 438 Genetics GENESIS 780 Golden Helix 312 Novogene 130 Trinean 132 Centogene 220 Health in Code 347 NuGEN Technologies 646 UK NEQAS for Molecular Genetics 564 Centro Nacional de Análisis HELIXIO 582 Omega Bio-tek 750 Variantyx 464 Genómico (CNAG-CRG) 354 HTG Molecular Diagnostics 178 Omicia - see Fabric Genomics 286 Westburg 328 CEQAS 350 Illumina 140 ORPHANET - INSERM US14 262 Wielkopolska Region 780 CGC Genetics 290 imegen 252 Oxford Gene Technology 344 WILEY 110 Chroma Technology 376 Integrated DNA Technologies (IDT) 184 Oxford Nanopore Technologies 578 Wisepress Medical Bookshop 351 Congenica 434 Interactive Biosoftware 336 PacBio (Pacific Biosciences) 230 ZeClinics 294 COPAN FLOCK TECHNOLOGIES 520 Invitae 186 Partek 544 Carl Zeiss 726 Covaris Europe 250 Irvine Scientific 320 PC PAL - PedigreeXP 134 Zymo Research Europe 122 CyberGene 182 Isohelix 326 PCR Biosystems 224 INFORMATION

84 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG INFORMATION EXHIBITION PLAN GENERAL SATURDAY SUNDAY MONDAY TUESDAY SATELLITES AWARDS INFORMATION

ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 85 INFORMATION EXHIBITION Exhibition & Poster Area - Hall C – Dates & Opening Hours

Friday, May 26: CLOSED

GENERAL Saturday, May 27: 09.30 – 18.30 hrs Sunday, May 28: 09.00 – 17.45 hrs Monday, May 29: 09.00 – 17.45 hrs Tuesday, May 30: CLOSED

Products & Services Index The Index of Products and Services may be found in the ESHG 2017 Conference App. Download the App, for iOS or Android, from iTunes App Store and Google Play Store. SATURDAY

Exhibition Catalogue & Corporate Satellites The Exhibition Catalogue & Corporate Satellites book, in your conference bag, lists exhibitors with further information on the companies and products, as well as invites to the corporate satellites, and their programmes.

Floor Plan – Exhibition & Poster Topics

SUNDAY You will find the floor plan of the Exhibition and Poster Topics on the next page and on a separate A4 sheet in your conference bag.

Posters – Mounting, Viewing & Removal Schedules Poster presentations will be held in the Exhibition & Poster Area, from May 27 – 30. Poster mounting, viewing and removal times are: Saturday, May 27, 2017: 09.30 – 18.30 hrs Poster mounting / viewing Sunday, May 28, 2017: 09.00 – 17.45 hrs Poster viewing

MONDAY Monday, May 29, 2017: 09.00 – 17.45 hrs Poster viewing 13.30 – 17.45 hrs Poster removal Groups A-C 17.45 – 18.00 hrs Poster removal Group D - Strict Posters not removed by 18.00 hrs on Monday May 29, will be taken down and will not be stored or sent to authors after the meeting but discarded.

Coffee Breaks, Cash Bar, Lunch Official coffee breaks, as per the final programme, will be held in the Exhibition hall on Saturday, Sunday and Monday. Also outside the TUESDAY official coffee breaks times there will be free coffee and tea in the exhibition hall. The Cash Bar in the Exhibition hall is open during exhibition opening hours. The menu includes sandwiches, smørrebrød, salads, croissants, warm snacks such as burgers and hot dogs, drinks, special coffees. The menu is available at the Cash Bar. Payment in cash (DKK, EURO) or credit card. Pre-ordered lunch bags will be available during lunch breaks at the left and right coffee break areas (the ones without the Cash Bar). Lunch bags cannot be ordered on-site.

Lead Retrieval System used by Companies

SATELLITES Many companies will be using a so-called Lead Retrieval System on their stands and at the entrance to their corporate satellites. Note the following please: • companies using the device will ask permission to scan the barcode on your badge • this barcode gives this company access to your contact details as follows: o name and full postal address o e-mail address Thank you for your understanding and cooperation. AWARDS Exhibition Management

ROSE INTERNATIONAL Name Exhibition Management & Congress Consultancy bv P.O. Box 93260 Address NL-2509 AG The Hague The Netherlands Telephone +31 (0)70 383 89 01 Fax +31 (0)70 381 89 36

INFORMATION E-mail [email protected]

86 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG