THE EUROPEAN SOCIETY OF HUMAN GENETICS

EUROPEAN HUMAN GENETICS CONFERENCE 2018 in conjunction with the European Meeting on Psychosocial Aspects of Genetics MiCo | Milan - Italy | June 16 - 19

www.eshg.org @eshgsociety PROGRAMME facebook.com/eshg.org #eshg2018 GENERAL FLOORPLAN FLOOR3

AUDITORIUM

BROWN 3 BROWN 2 BROWN 1 FLOOR AMBER 7+8 PREVIEW CENTRE 2

AMBER 3+4 AMBER 2 AMBER 1

WHITE 1 WHITE 2 GOLD ROOM

BLUE 1+2 YELLOW 1+2 FLOOR RED 1+2 YELLOW 3 1

Gate 17 ENTRANCE

MAIN ENTRANCE REGISTRATION

FLOOR EXHIBITION HALL

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Metro Station „Portello“ Gate 2 ENTRANCE

2 ESHG 2018 | Milan, Italy | www.eshg.org THE EUROPEAN SOCIETY OF HUMAN GENETICS

EUROPEAN HUMAN GENETICS CONFERENCE 2018 in conjunction with the European Meeting on Psychosocial Aspects of Genetics MiCo | Milan - Italy | June 16 - 19

PROGRAMME

ESHG 2018 | Milan, Italy | www.eshg.org 3 GENERAL TABLE OF CONTENTS GENERAL General Floorplan 2 Welcoming Address 5 Committees - Board - Organisation 6 Acknowledgements 7 Future European Human Genetics Conferences 7

SATURDAY CME Credits 7 Get the most out of the ESHG 2018 8 Session Type Descriptions 9 Programme at a Glance - Saturday 10 Programme at a Glance - Sunday 11 Programme at a Glance - Monday 12 Programme at a Glance - Tuesday 13 SUNDAY Poster Topics 14 Poster Topics - Technical Information 14

ESHG Scientific Programme Saturday, June 16 15 Sunday, June 17 21 Monday, June 18 29 MONDAY Tuesday, June 19 37

Programme Information Sponsored Session, Saturday, June 16 44 Corporate Satellites, Saturday, June 16 - Monday, June 18 45 Business and Ancillary Meetings 54 ESHG Award & Mendel Lectures 55 TUESDAY ESHG Award Lecturer Interview 56 Mendel Lecturer Interview 57 Young Investigator Award Candidates 58 Poster Award Finalists 61

EMPAG Scientific Programme Saturday, June 16 64

SATELLITES Sunday, June 17 66 Monday, June 18 68 Tuesday, June 19 69

Information General Information 72

AWARDS Registration fees 75 Networking Events 76 List of Exhibitors 76 Exhibition Plan 77 Exhibition Information (see the Exhibition Catalouge for more information) 78 EMPAG INFORMATION

4 ESHG 2018 | Milan, Italy | www.eshg.org GENERAL WELCOMING ADDRESS GENERAL

Dear Colleagues and Friends, SATURDAY 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 2018, in Milan, Italy. The ESHG is pleased to return to Milan and looks forward to the familiarity of old friends and places as well as to meeting new colleagues and making new collaborations. The excellent programme committee selected the best speakers and presentations which together with other highlights will ensure that the 2018 conference will continue to build th on the success of the 50 anniversary conference. The ESHG is taking the first step for SUNDAY (hopefully) the next 50 years and delivering a conference showcasing the latest findings in the field of human genetics, both basic and applied. The conference is held in conjunction with the European Meeting on the Psychosocial Aspects of Genetics, emphasising the multidisciplinary and international remit of the Society. Milan, known as the industrial capital of Italy, also treasures a notable artistic as well as scientific tradition. Just think of Leonardo da Vinci, the visionary genius, author of the Christine Patch, President European Society of Human Genetics Codex Atlanticus and of the Last Supper, that you will be able to admire in the Biblioteca MONDAY Ambrosiana and in the Refectory of S. Maria delle Grazie, respectively. In that tradition, Milan is today the place of many universities as well as a host of research institutes, providing the right climate for an international scientific meeting, such as the ESHG Conference.

We are very much looking forward to an exciting and inspirational meeting. TUESDAY Christine Patch President European Society of Human Genetics

EMPAG Welcome SATELLITES

On the behalf of the Scientific Programme Committee, we are delighted to welcome you to the 16th European Meeting on Psychosocial Aspects of Genetics, the 9th EMPAG held concurrently with the European Human Genetics Conference. Here, we would like to thank ESHG for their help and support in planning and organising this meeting. Our first meeting was held in 1988 in Groningen and since 2002 we have joined ESHG every two years, and our partnership is becoming stronger and stronger. AWARDS From the beginning till now the aim of these meetings is to provide a forum for the discussion of psychological and social aspects of practice in the rapidly developing field of clinical genetics. Considering the growing of complexity in the clinical setting, we recently Elisabetta Razzaboni & Sam Riedijk chose to expand our meeting to encompass ethical and legal issues related to genetics. EMPAG Co-chairs Previous EMPAG meetings have attracted practitioners and researchers from Europe and beyond.

We hope that this proves to be another very stimulating scientific meeting and that you will EMPAG have an enjoyable stay here in Milan.

Elisabetta Razzaboni & Sam Riedijk EMPAG Co-chairs WELCOME INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 5 GENERAL COMMITTEES - BOARD - ORGANISATION

European Society of Human Genetics

Executive Board 2017-2018 Scientific Programme Committee President Chair Chrstine Patch, UK Joris Veltman, UK GENERAL President-Elect Members Gunnar Houge, NO Yasemin Alanay, TR Conxi Lazaro, ES Vice-President Alfredo Brusco, IT Lucia Migliore, IT Olaf Riess, DE Valerie Cormier-Daire, FR Carla Oliveira, PT Jose Luis Costa, PT Lucy Raymond, UK Secretary-General Domenico Coviello, IT Alexandre Reymond, CH Karin Writzl, SI Yanick Crow, UK Samuli Ripatti, FI

SATURDAY Deputy Secretary-General Vita Dolzan, SI Maria Jesus Sobrido, ES Carla Oliveira, PT Francesca Forzano, UK Malte Spielmann, US Treasurer Brunella Franco, IT Zeynep Tümer, DK Andrew Read, UK Lude Franke, NL Enza Maria Valente, IT Executive Officer Maurizio Genuardi, IT Thierry Voet, BE Jerome del Picchia, AT Martin Kircher, DE Karin Writzl, SI Maris Laan, EE SUNDAY EMPAG SPC Co-Chairs Elisabetta Razzaboni, IT Sam Riedijk, NL

Annual Meetings Committee 2017-2018 President Members Observers Andrew Read, UK Gunnar Houge, NO Jerome del Picchia, AT MONDAY Carla Oliveira, PT Jantie de Roos, NL Christine Patch, UK Kristina Theuerer-Libova, AT Olaf Riess, DE Flora van Laer, NL Karin Writzl, SI

Board Members Liaison Members Kristiina Aittomäki, FI Robert Hofstra, NL Han Brunner, NL TUESDAY Marta Bertoli, UK Bart L. Loeys, BE Christophe Cordier, CH Olaf Bodamer, US Julie McGaughran, AU Martina Cornel, NL Isabella Ceccherini, IT Philippos Patsalis, CY Helena Kääriäinen, FI Angus John Clarke, UK Djana Plaseska-Karanfilska, MK Thomas Liehr, DE Jill Clayton-Smith, UK Trine E. Prescott, NO Milan Macek, CZ Johan den Dunnen, NL Inga Prokopenko, UK Bela Melegh, HU Munis Dundar, TR Feliciano Ramos, ES Hans Scheffer, NL Francesca Forzano, UK André Reis, DE Angus Clarke, UK SATELLITES Christian Gilissen, NL Zeynep Tümer, DK Gert Jan van Ommen, NL Kinga Hadzsiev, HU Hilde Van Esch, BE Joris Veltman, UK Ellen Heitzer, AT Reiner A. Veitia, FR

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

European Human Genetics Conference 2018

Conference Organisation and Exhibition, Sponsoring and Hotel Accommodation Abstract Management Corporate Satellites MiCo dmc

EMPAG ESHG/EMPAG 2018 Congress Office ROSE INTERNATIONAL Ms. Mariarosaria Cavaliere Wiener Medizinische Akademie GmbH Exhibition Management and Congress P.le Carlo Magno 1 - 20149 Milan, IT Kristina Theuerer-Libova Consultancy bv T: +39 02 872 550 50 Alser Strasse 4, 1090 Vienna, AT Jantie de Roos, Flora van Laer E: [email protected] T: +43 1 405 13 83 11 P.O. Box 93260 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]

INFORMATION www.rose-international.com

6 ESHG 2018 | Milan, Italy | www.eshg.org GENERAL ACKNOWLEDGEMENTS - FUTURE MEETINGS

The European Human Genetics Conference gratefully acknowledges the support of the following companies (list correct as per date of printing): GENERAL

10x Genomics Eppendorf Promega Agilent Technologies Fabric Genomics QIAGEN AstraZeneca Face2Gene Roche Sequencing Solutions Asuragen FLUIDIGM SISTEMAS GENÓMICOS BD Life Sciences GE Healthcare SOPHiA GENETICS SATURDAY Blueprint Genetics Illumina Swift Biosciences Canon BioMedical Integrated DNA Technologies Theragen CENTOGENE LGC Genomics Thermo Fisher Scientific Congenica NanoString Technologies Twist Bioscience Covaris New England Biolabs Enzo Life Sciences NIPD Genetics SUNDAY Future European Human Genetics Conferences

European Human Genetics Conference 2019 Gothenburg, Sweden June 15 – 18, 2019 European Human Genetics Conference 2020 Berlin, Germany MONDAY June 6 – 9, 2020 European Human Genetics Conference 2021 Glasgow, United Kingdom June 12 – 15, 2021 European Human Genetics Conference 2022

Vienna, Austria TUESDAY June 11 – 14, 2022

CME Credits

The European Society of Human Genetics is accredited by the European Accreditation Council for Continuing Medical Education (EACCME) to provide the following CME activity for medical specialists. The EACCME is an institution of the European Union of Medical Specialists (UEMS), SATELLITES www.uems.net. The European Human Genetics Conference 2018 is designated for a maximum of 27 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. 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. EMPAG INFORMATION

Download the ESHG App! https://2018.eshg.org/index.php/programme2018/conference-app/

ESHG 2018 | Milan, Italy | www.eshg.org 7 GENERAL GET THE MOST OUT OF THE ESHG 2018

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.

The ESHG 2018 Congress App GENERAL Do you always want to be up-to-date? The ESHG Society App will guide you through the programme day by day or by session type, will make available profiles of speakers and delegates 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. Available for iOS and Android in your App and Play Stores. Search for European Society of Human Genetics.

Young Investigators in Focus SATURDAY A workshop (‘W03 Career development for scientific millennials) on Saturday aims directly at young investigators attending the conference. Two new types of fellowships were allocated to young investigators from European and Non-European countries. Over 100 fellowships for young investigators were allocated in 2018. 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. Post-doc Young Investigator Award Winners of 2017 have been invited to co-chair a session at this year’s conference. Have a look at the 2018 candidates online and from page 58 onwards. SUNDAY 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 #eshg2018 #sessionnumber (e.g. #eshg2018 #S01). For all sessions, remember to use the discussion microphones in aisles of the lecture halls.

MONDAY e-Posters & Best Posters

For the second time, a number of posters will be presented as e-Posters at 20 e-poster stations on the balcony. The list of available posters can be viewed on any of these screens. From there, they 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 28 Best Posters were selected for a short presentation (3 minutes) in two Concurrent Sessions – C10 on Sunday and C22 on Tuesday. After the presentation of all posters, the authors and the audience will proceed to the electronic posters right below the lecture hall on the balcony for discussion with the authors for the remainder of the session.

TUESDAY The list of e-Posters is also available on www.eshg.org/e-posters.0.html.

Live streaming and on-demand webcast of selected sessions

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 as well as the ESHG-ASHG Building Bridges Session joint with EMPAG will be available as live webcast and as on-demand streaming after the conference. SATELLITES The following sessions are planned to be available: - E1-E16 - PL3, PL4 & PL5 - S17 Note that the actual availability of the talks depends on the consent of the speakers.

AWARDS Live stream in the exhibition

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

Poster viewing with authors

EMPAG Posters will be discussed in 4 different groups, at 10.15 – 11.15 hrs and 16.45 – 17.45 hrs both on Sunday and Monday to offer enough interaction between the authors and the audience. All posters will remain on display from Saturday to Monday. INFORMATION

8 ESHG 2018 | Milan, Italy | www.eshg.org GENERAL SESSION TYPE DESCRIPTIONS

Plenary Sessions (PL1 - PL4) GENERAL 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, and 45 minutes in PL3 + PL4. SATURDAY

Concurrent Symposia (S01 – S19) 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 – E16) The Scientific Committee of the ESHG determines topics for these 90 minutes sessions which will best serve theeducational 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 SATELLITES 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 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. 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 interactive discussion during or at the end of the workshop is expected.

EMPAG Sessions (EPL, EBPS, ESY, EWS) EMPAG Every other year, the ESHG holds its annual meeting in conjunction with the European Meeting on Psychosocial Aspects of Genetics, which has a special focus on Genetic Counsellors and Nurses in Plenaries Workshops and Educational Sessions, as well as joint ESHG-EMPAG Sessions. ESHG attendees are welcome to attend the EMPAG sessions and viceversa. INFORMATION

Corporate Satellites (CS01-CS33) 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 2018 | Milan, Italy | www.eshg.org 9 GENERAL PROGRAMME AT A GLANCE - SATURDAY

AMBER 2 AMBER CS08 Congenica Satellite Corporate Satellite Corporate GENERAL

AMBER 1 AMBER CS07 Eppendorf Satellite

SATURDAY BROWN 2 BROWN Sponsored Session Sponsored CS06 Blueprint Genetics Satellite

SUNDAY BROWN 1 BROWN CS01 Asuragen Satellite CS05 Canon BioMedical Satellite - - Educational Session Educational AMBER 7+8 AMBER W04 Phenotype: genotype in disease rare RD-Connect BPS1 EMPAG Hopes and expectations on genome editing PL1 EMPAG Ensuring good clinical practice in whole genome sequencing PL2 EMPAG Improving communication in genetic coun selling PL3 EMPAG Profes Educating sionals And Public MONDAY - -

YELLOW 1+2 W02 Devel Career for opment Scientific Millen nials C06 Organs Internal Workshop Opening Networking Mixer Fruit break / Posters / Exhibition / Posters break Fruit TUESDAY Coffee break / Posters / Exhibition Posters / break Coffee (Outside Balcony and Main Entrance) Balcony (Outside BLUE 1+2 E05 Bone Density: High and Low C05 and Neurological Neuromuscular Disorders - SATELLITES BROWN 3 BROWN Coffee break Coffee Concurrent Session Concurrent E04 Pharmacog enomics C04 Epigenetics and Gene Regulation AWARDS RED 1+2 Lunch break / Posters / Exhibition / Posters break Lunch E03 for Resources gene function analysis C03 Multi-omics 1 Symposium AUDITORIUM EMPAG E02 Hereditary cancer C02 Syndrome 1 updates

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. the session from Persons who will not observeexcluded this rule will be or a mobile phone). if done with a camera taking that forbidden (no matter note picturesPlease or filming during the sessions is GOLD ROOM GOLD E01 Sponsored Educational W01 NGS in the - Mistakes Clinic and Quality Assurance Opening Welcome Address PL1 Opening Plenary Session C01 and Precision Predictive Medicine PL2 New? What’s Highlight Session - including late breaking abstracts Plenary Session ------TIME 08.00 10.00 10.00 10.30 10.30 12.00 12.00 14.00 14.00 14.30 14.30 16.00 16.00 16.30 16.30 18.00 18.00 18.30 18.30 20.30 20.30 22.00 INFORMATION Saturday, June 16, 2018 Saturday, Session Types:  NOTICE: IMPORTANT

10 ESHG 2018 | Milan, Italy | www.eshg.org GENERAL PROGRAMME AT A GLANCE - SUNDAY

GENERAL AMBER 2 AMBER CS13 Face2Gene Satellite CS18 England New Biolabs (NEB) Satellite CS23 GE Healthcare Satellite

AMBER 1 AMBER CS12 NIPD Genetics Satellite CS17 Fabric Genomics Satellite CS22 DNA Integrated Technologies Satellite SATURDAY

BROWN 2 BROWN CS11 QIAGEN Satellite CS16 NanoString Technologies Satellite

SUNDAY

BROWN 1 BROWN CS10 Agilent Technologies Satellite CS15 SOPHiA GENETICS Satellite

MONDAY AMBER 3+4 AMBER CS09 Fisher Thermo Scientific Satellite CS14 AstraZeneca Satellite CS19 Illumina Satellite AMBER 7+8 AMBER EMPAG BPS2 EMPAG Side Legal The of Genomic Care EMPAG Symposium Communication of genetic information with and within families W11 Recontacting in genetics - joint with EMPAG PL4 EMPAG New What’s in Hereditary Cancer TUESDAY YELLOW 1+2 S04 Genetics of dizziness C12 Skin and Bones W10 Hereditary Hot Cancer: in topics diagnostics, and counselling research E09 in the brain Iron ESHG Membership Meeting Fruit break / Poster viewing / Exhibition / Poster break Fruit Coffee break / Poster viewing / Exhibition Poster / break Coffee viewing / Exhibition Poster / break Coffee - SATELLITES Poster Viewing with authors and coffee - (GROUP B) - with authors and coffee Viewing Poster Poster Viewing with authors and coffee - (GROUP A) (GROUP - with authors and coffee Viewing Poster BLUE 1+2 E07 Organoids C11 Metabolic and Mitochondrial Disorders W09 Diag Prenatal nosis E08 Congenital vasculopathies AWARDS BROWN 3 BROWN E06 Statistics in Genetic and Research Diagnostics C10 1 Best Posters W08 UCSC Genome Browser S08 Microbiome and Virome - - - RED 1+2 S03 GenomeOrgan and ization Function C09 Mendelian chromatin disorders W07 Exome sequencing and inter variant pretation S07 Drug repur posing for genetic treating disorders Lunch break / Poster viewing / Exhibition / Poster break Lunch EMPAG - AUDITORIUM S02 DNA damage in and repair cancer C08 Population Genetics W06 Pharmacog enomic testing: gene panel, whole exome or whole genomes? S06 Liquid biopsies in cancer INFORMATION - - GOLD ROOM GOLD S01 Prenatal Genetics - joint with EMPAG C07 NGS diag nostics W05 Dysmor phology S05 Large-scale genetic studies in complex diseases ------TIME 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, June 17, 2018 Sunday,

ESHG 2018 | Milan, Italy | www.eshg.org 11 GENERAL PROGRAMME AT A GLANCE - MONDAY

AMBER 2 AMBER CS28 Fisher Thermo Scientific Satellite CS33 Blueprint Genetics Satellite

GENERAL AMBER 1 AMBER CS27 Sistemas Genómicos Satellite CS32 FLUIDIGM Satellite

BROWN 2 BROWN SATURDAY CS26 Roche Sequencing Solutions Satellite CS31 Twist Bioscience Satellite

BROWN 1 BROWN CS25 CENTOGENE Satellite CS30 10x Genomics Satellite SUNDAY

AMBER 3+4 AMBER CS24 Agilent Technologies Satellite - MONDAY AMBER 7+8 AMBER EMPAG PL5 EMPAG know or not To know to EMPAG Symposium Lecture Tibben EMPAG Workshop genetic Contacting practical relatives: and implications ethico-legal issues healthcare for professionals W18 Community genetics EMPAG Workshop a Developing multidisciplinary in approach clinical inter of pretation for NGS variants Genetic Services Conference Party (20.00) Conference TUESDAY YELLOW 1+2 E11 Premature ageing C18 Cardiovascular disorders W17 Ensembl Using and tools: data a worked example S16 Human epigenome dynamics Fruit break / Poster viewing / Exhibition / Poster break Fruit Coffee break / Poster viewing / Exhibition Poster / break Coffee viewing / Exhibition Poster / break Coffee - Poster Viewing with authors and coffee - (GROUP C) - with authors and coffee Viewing Poster Poster Viewing with authors and coffee - (GROUP D) (GROUP - with authors and coffee Viewing Poster BLUE 1+2 S12 Retinal diseases C17 Intellectual disability 1 W16 Quality assurance E13 abnor Brain malities in fetal life SATELLITES BROWN 3 BROWN S11 Epigenetics of the brain C16 Multi-omics 2 W15 Big data E12 Undiagnosed disease and matchmaking initiatives - AWARDS RED 1+2 E10 Genetics of infertility C15 Syndrome 2 updates W14 Number Copy Inter Variant and pretation Classification S15 Understanding non-coding variants Lunch break / Poster viewing / Exhibition / Poster break Lunch - EMPAG AUDITORIUM S10 No patho genic variant detected - What next? C14 genetics Cancer W13 Genomic Quiz with - joint EMPAG S14 Cellular heterogeneity in health and disease - - - GOLD ROOM GOLD S09 GenomicNew Technologies C13 and Prenatal Reproductive Genetics W12 Dysmor phology supported by next-gener pheno ation typing S13 Genome editing ------TIME 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 20.00 INFORMATION Monday, June 18, 2018 Monday,

12 ESHG 2018 | Milan, Italy | www.eshg.org GENERAL PROGRAMME AT A GLANCE - TUESDAY GENERAL YELLOW 1+2 Corporate Satellite Corporate E16 Genetics with a Bite PL6 EMPAG decision-making Perinatal SATURDAY

Sponsored Session Sponsored BLUE 1+2 SUNDAY E15 of sexual Disorders development C23 Sensory disorders

MONDAY Educational Session Educational BROWN 3 BROWN S19 nanotechnologies: New the DNA Origami C22 2 Best Posters TUESDAY Workshop

Lunch break (Gold Foyer and Auditorium Foyer) and Auditorium Foyer (Gold break Lunch RED 1+2 SATELLITES Coffee break (Yellow Foyer, Gold Foyer, Auditorium Foyer) Auditorium Foyer, Gold Foyer, break Coffee (Yellow S18 Regulatory sequence functions and elements C21 Genetics Statistical Concurrent Session Concurrent AWARDS

AUDITORIUM E14 Single-cell analysis technologies C20 Intellectual Disability 2 Symposium EMPAG

INFORMATION GOLD ROOM GOLD S17 Building Bridges ESHG-ASHG Germline genome Debate: with EMPAG editing - joint C19 sequencing Advanced technologies PL 3 Mendel Lecture PL4 Lecture ESHG Award PL5 Session Award - Honorary Award - EJHG Awards Award Investigator Young - Awards - Poster - Closing Plenary Session ------TIME 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 16.00 Session Types: NOTICE: IMPORTANT or a mobile phone). if done with a camera taking that forbidden (no matter note picturesPlease or filming during the sessions is the chairpersons. the session by from who will not observe this rule will be excluded Persons Tuesday, June 19, 2018 Tuesday,

ESHG 2018 | Milan, Italy | www.eshg.org 13 GENERAL POSTER TOPICS - TECHNICAL INFORMATION

Poster Topics

P01 Reproductive Genetics/Prenatal Genetics P01.01 - P01.98 P02 Sensory disorders (eye, ear, pain) P02 .01 - P02 .60 P03 Internal organs & endocrinology (lung, kidney, liver, gastrointestinal) P03.01 - P03.46

GENERAL P04 Skeletal, connective tissue, ectodermal and skin disorders P04 .01 - P04 .91 P05 Cardiovascular disorders P05.01 - P05.74 P06 Metabolic and mitochondrial disorders P06 .01 - P06 .74 P07 Immunology and hematopoietic system P07 . 01 - P07 . 18 P08 Intellectual Disability P08 .01 - P08 .78 P09 Neurogenetic and psychiatric disorders P09 . 001 - P09 .156 P10 Neuromuscular disorders P10 . 01 - P10 . 55 P11 Multiple Malformation/Anomalies syndromes P11.001 - P11.103

SATURDAY P12 Cancer genetics P12 .001 - P12 . 216 P13 Basic mechanisms in molecular and cytogenetics P13.01 - P13.33 P14 New diagnostic approaches, technical aspects & quality control P14 . 001 - P14 .107 P15 Personalized/Predictive Medicine and Pharmacogenomics P15.01 - P15.50 P16 Omics/Bioinformatics P16.01 - P16.79 P17 Epigenetics and Gene Regulation ...... P17.01 - P17.66 P18 Genetic epidemiology/Population genetics/Statistical methodology and evolutionary genetics P18.01 - P18.79 SUNDAY P19 Genetic counselling/Education/public services P19 . 01 - P19 . 44 P20 Psychological/Ethical/legal issues P20.01 - P20.16 EMPAG Posters (sorted by topic) EMP1 .01 - EMP1 .79

Technical Information for Presenters of Posters

Posters will be on display from Saturday, June 16, (09.30 hrs) to Monday, June 18 (17.45 hrs)

MONDAY Poster mounting will be possible on: Saturday, June 16, from 09.30 hrs onwards Removal will be mandatory on: Groups A-C: Monday, June 18, 2018: 16.45 – 17.45 hrs (strict!) Group D: Monday, June 18, 2018: 17.45 – 18.00 hrs (strict!)

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, June 18, 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. TUESDAY 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.

Presence at Posters In order to enable discussion and interaction with other participants, it is mandatory for you or one of your group members to be at your poster board between: Poster Group A: 10.15 – 11.15 hrs on Sunday, June 17 for posters with board numbers ending with “A” (e.g. P01.01A) Poster Group B: 16.45 – 17.45 hrs on Sunday, June 17 for posters with board numbers ending with “B” (e.g. P01.01B) Poster Group C: 10.15 – 11.15 hrs on Monday, June 18 for posters with board numbers ending with “C” (e.g. P01.01C) SATELLITES Poster Group D: 16.45 – 17.45 hrs on Monday, June 18 for posters with board numbers ending with “D” (e.g. P01.01D)

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

Technical Information for Presenters of E-Posters AWARDS Schedule for display and upload Electronic Posters will be on display from Saturday, June 16 (09.30 hrs) to Tuesday, June 19 (14.30 hrs). The upload of the e-poster file will be possible in the Preview centre from Friday, June 15 from 14.00 hrs onwards (during conference times).

Technical Information for Presenters of Talks

EMPAG • 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 Preview centre well in advance of your talk to check compatibility. • Please bring a USB-key all formatted for Windows® (PC). You may want to carry a second key as a back-up in case there is any insoluble technical problem. • File Format: Microsoft® Power Point 2007™ (or newer) presentation formatted for Windows® (PC) only. • Preferred Resolution: 1920 x 1080 pixel

INFORMATION • Screen format: 16:9

14 ESHG 2018 | Milan, Italy | www.eshg.org SCIENTIFIC PROGRAMME SATURDAY, JUNE 16, 2018

ESHG 2018 | Milan, Italy | www.eshg.org 15 PROGRAMME SATURDAY, JUNE 16

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 AMBER 7+8 08.00 Sponsored - Educational 10.00 Session E01 (See page 44 GENERAL for details)

10.00 Corporate Satellites - Coffee break (see page 45 for details) 10.30 10.30 W01 E02 E03 E04 E05 W02 W04 - NGS in the Clinic Hereditary cancer Resources for Pharmacog- Bone Density: Career Devel- Phenotype: 12.00 - Mistakes and Chair: gene function enomics High and Low opment for Scien- genotype data SATURDAY Quality Assurance Jose L. Costa analysis Chair: Chair: tific Millennials collection and Organisers: Chair: Vita Dolzan Yasemin Alanay (How to present analysis for rare Gijs Santen Brunella Franco - How to network disease research: Helger Yntema - How to enhance a hands-on your career) workshop with Organiser: the RD-Connect Roy Sheppard platform

SUNDAY Organisers: Conxi Lazaro Sergi Beltran

10.30 10.30-10.40 E02.1 E03.1 E04.1 E05.1 Do you brighten 10.30 Introduction of the From Li-Frau- Analysis of Preemptive phar- Decreased Bone a room when you Overview of the workshop meni syndrome mammalian gene macogenomic Density: From walk in, or when you RD-Connect plat- Gijs Santen leave? form to TP53-related function through testing for pre- Gene to Pathways 10.40-11.00 What do your Sergi Beltran inherited cancers: mouse pheno- venting adverse Outi Mäkitie, Helsinki, Easy to make bioin- colleagues say about 10.50 MONDAY update on mo- typing drug reactions Finland formatics mistakes you behind your Hands-on workshop Christian Gilissen lecular basis and Damian Smedley, Henk-Jan Guchelaar,  back? on the identification clinical manage- London, United Leiden Genome 11.00-11.20 How you are of rare disease caus- ment Kingdom Technology Ctr, Leiden, ing variants through Evaluation and Netherlands perceived has a validation of NGS Thierry Frebourg,  profound effect the RD-connect pipelines Rouen, France on your ability to Genome-Phenome Erika Souche attract professional analysis platform 11.15 E02.2 E03.2 E04.2 E05.2 opportunities into Steven Laurie, Leslie 11.20-11.40 Matalonga, Sergi

TUESDAY Prostate Cancer An atlas of human From pharmacog- New Perspectives your life. The value of External Beltran Quality Assessment Predisposition: long non-coding enomics testing in the Treatment This thought- (EQA) Implications for RNAs to point-of-care of Osteopetrosis provoking and 11.45 Weronika Gutowska- Early Detection Piero Carninci,  clinical decision Anna Teti, L‘Aquila, entertaining session Open discussion Ding and Treatment Yokohama, Japan support Italy will provide you with 11.40-12.00 Peter Nelson, Seattle, Mark Ratain, Chicago, practical ideas, new Discussion with WA, USA IL, USA skills and strategies panel to help you develop Helger Yntema & Gijs your career.

SATELLITES Santen

12.00 - Corporate Satellites 14.00 Lunch break / Posters / Exhibition (see page 45 for details) AWARDS EMPAG INFORMATION

16 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME SATURDAY, JUNE 16

TIME GOLD ROOM GENERAL 14.00 PL 0 - Welcoming Address- joint with EMPAG 14.30 Chairs: Christine Patch, Joris Veltman Welcoming Addresses by Christine Patch Maurizio Genuardi Elisabetta Razzaboni President of the ESHG President of the Italian Society of Human Genetics Sam Riedijk SATURDAY Co-Chairs of the EMPAG SPC

14.30 PL1 - Opening plenary lecture 16.00 Chairs: Christine Patch, Joris Veltman

14.30 PL1.1 Leena Peltonen Lecturer - Complex Genetics

Tuuli Lappalainen, New York, NY, USA SUNDAY

15.00 PL1.2 Recent advances in mutational signatures of human cells Serena Nik-Zainal, Cambridge, United Kingdom

15.30 PL1.3 Cell by Cell: Organoid-based Modelling of Human Diseases at High Resolution Giuseppe Testa, Milan, Italy MONDAY 16.00 - Fruit break / Posters / Exhibition 16.30

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 16.30 C01 C02 C03 C04 C05 C06 TUESDAY - Precision and Syndrome updates 1 Multi-omics 1 Epigenetics and Gene Neurological and Internal Organs 18.00 Predictive Medicine Chairs: Chairs: Regulation Neuromuscular Chairs: Chairs: Jill Clayton-Smith Robert Hofstra Chairs: Disorders Isabella Ceccherini Helena Kääriäinen Lara Rodriguez Laguna Tommaso Pippucci Ellen Heitzer Chairs: Sabrina Giglio Massimo Gennarelli Anja Will Hilde Van Esch Svenja Schneider

16.30 C01.1 C02.1 C03.1 C04.1 C05.1 C06.1 SATELLITES Polygenic risk score Lethal and non-lethal Host genetics and A comprehensive SMPD4 loss-of-func- Description can replace clin- GLIS1 related malfor- microbial impact on study comparing on- tion mutations cause Osteo-Oto-Hepa- ical risk scores in mation syndromes. plasma metabolites and off-target levels cerebral malformations to-Enteric (O2HE) predicting diabetic Paolo Prontera, Medical is linked to the cardi- of the most common and arthrogryposis syndrome, a new complications and Genetics Unit, Univ and ovascular risk forms of CRISPR/Cas9 through endoplasmic recessive autosomal their response to Hosp of Perugia, Perugia, Alexandra Zhernakova,  guide RNAs reticulum stress and syndrome secondary therapy Italy Univ Medical Ctr Ashley Jacobi, Integrated autophagy induced by to loss of function Pavel Hamet, Dept of Groningen, Groningen, DNA Technologies, dysregulation of sphin- mutations in the Med, Univ de Montréal, Netherlands Coralville, IA, USA golipid metabolism UNC45A gene AWARDS CRCHUM, Montréal, Pamela Magini, Medical Laurence Faivre, Dept de Canada Genetics Unit, S.Orsola- Genetique, Dijon, France Malpighi Univ Hosp, Bologna, Italy

16.45 C01.2 C02.2 C03.2 C04.2 C05.2 C06.2 Returning cardio- The Study of Adults Single-cell multi-om- The MEF2C regu- Resolving the diag- Targeted NGS in vascular disease risk and Adolescents with ics sequencing to un- latory network is nostic odyssey for primary ciliary dyski-

prediction back to Silver-Russell syn- derstand the nature, disrupted in patients young patients with nesia: expanding mu- EMPAG individuals motivate drome: evaluating the extent and biology of with Rett-like charac- rare genetic muscle tation spectrum and beneficial lifestyle adult phenotype of Sil- cellular heterogenei- teristics disease through the novel dynein-related changes: Preliminary ver-Russell syndrome ty in breast cancer Sarah Vergult, Ctr for application of extend- gene discovery results from the Oluwakemi Lokulo- Sebastiaan Vanuytven,  Medical Genetics Ghent, ed exome sequencing Mahmoud R. Fassad, GeneRISK-study Sodipe, Human KU Leuven, Leuven, Ghent Univ, Ghent Univ technologies Genetics and Genomic Elisabeth Widen, Inst for Development and Belgium Hosp, Ghent, Belgium Katherine Johnson,  Med, UCL GOS Inst of Child Molecular Med Finland Health, Faculty of Med, Newcastle Univ, Newcastle Health, London, United INFORMATION FIMM, Helsinki, Finland Univ of Southampton, upon Tyne, United Kingdom Southampton, United Kingdom Kingdom

Presentations highlighted by a grey background are from Young Investigator Award finalists. Institute, city and country refer to the affilitation of the presenting author.

ESHG 2018 | Milan, Italy | www.eshg.org 17 PROGRAMME SATURDAY, JUNE 16

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 cont. C01 C02 C03 C04 C05 C06 Precision and Syndrome updates 1 Multi-omics 1 Epigenetics and Gene Neurological and Internal Organs Predictive Medicine Regulation Neuromuscular

GENERAL Disorders

17.00 C01.3 C02.3 C03.3 C04.3 C05.3 C06.3 Development of a Mutations in the Unraveling the cis Personalized co-ex- Cis D4Z4 repeat du- Targeted exon point of carephar- homeobox gene and trans genetic pression networks plications associated skipping of a CEP290 macogenetic test GSX2 cause hypo- regulatory map in reveal genetic risk with facioscapulo- mutation is able to to avoid antibiotic plasia/agenesis of over 1,500 induced factors that change humeral muscular rescue cellular and related hearing loss the basal ganglia and pluripotent stem- the regulatory wiring dystrophy type 2 ciliary phenotypes in in neonates the olfactory bulbs cells lines of cells. Richard J. Lemmers,  vitro and in vivo SATURDAY John H. McDermott, and diencephal- Marc Jan. Bonder, Dylan H. de Vries, UMCG, Leiden Univ Medical Ctr, Elisa Molinari, Inst of Manchester Ctr for ic-mesencephalic EMBL-EBI, Hinxton, United Groningen, Netherlands Leiden, Netherlands Genetic Med, Newcastle Genomic Med, Manchester, junction dysplasia Kingdom upon Tyne, United United Kingdom Roberta De Mori,  Kingdom Neurogenetics Unit, IRCCS Santa Lucia Fndn, Rome, Italy

SUNDAY 17.15 C01.4 C02.4 C03.4 C04.4 C05.4 C06.4 From genetics to Loss of function Integration of Integrated analysis of Novel biallelic Single cell RNA se- therapy: successful mutations in TCF12 ~10,000 metabo- transcriptional regu- mutations in VPS13D quencing of T cells in one-year eculizumab cause autosomal lite features with lation in PLN R14del cause spastic ataxia Crohn’s disease iden- treatment of pro- dominant Kallmann genotype data and cardiomyopathy and lead to mito- tifies tissue specific tein-losing enterop- syndrome and immune phenotypes Jiayi Pei, Dept of chondrial dysfunc- drug targets athy caused by loss reveal network-level reveals genetic deter- Cardiology, Div Heart and tion Michiel D. Voskuil, Univ of the complement interactions between minants and common Lungs, Univ Medical Ctr Marija Dulovic, Inst of Medical Ctr Groningen,

MONDAY regulator CD55 causal loci regulatory modules Utrecht (UMCU), Utrecht, Neurogenetics, Luebeck, Groningen, Netherlands Netherlands Hagit N. Baris, The Erica E. Davis, Ctr for Xiaojing Chu, Dept Germany Genetics Inst, Rambam Human Disease Modeling, of Genetics, Univ of Health Care Campus, Haifa, Duke Univ Medical Ctr, Groningen, Univ Medical Israel Durham, NC, USA Ctr Groningen, Groningen, Netherlands

17.30 C01.5 C02.5 C03.5 C04.5 C05.5 C06.5 A pharmacogenetic Predictors of all- Plasma protein levels Alteration of HDAC9 Mutations in the Mutations in BNC2 TUESDAY study implicates cause mortality in - a link between exons that also thioredoxin related Lead to Autoso- NINJ2 in the response adults with 22q11.2 host microbiome, function as enhanc- gene TMX2 cause pri- mal-Dominant to IFNbeta in Multi- deletion syndrome genetics, metabolites ers leads to TWIST1 mary microcephaly, Lower Urinary Tract ple Sclerosis patients Anne S. Bassett, Toronto and disease-related haploinsufficiency polymicrogyria and Obstruction (LUTO) Filippo Martinelli General Hosp, Toronto, phenotypes that result in limb severe neurodegen- Alina C. Hilger, Inst of Boneschi, Dept of Canada Daria V. Zhernakova,  and craniofacial eration with impaired Human Genetics, Univ of Biomedical Sciences for Dept of Genetics, Univ of phenotypes mitochondrial energy Bonn, Bonn, Germany Health, Univ of Milan, Groningen, Univ Medical Ramon Y. Birnbaum, Ben metabolism. Milan, Italy Ctr Groningen, Groningen, Gurion Univ of the Negev, Rachel Schot, Dept SATELLITES Netherlands Beer Sheva, Israel of Clinical Genetics, ErasmusMC, Rotterdam, Netherlands

17.45 C01.6 C02.6 C03.6 C04.6 C05.6 C06.6 Genome-wide Pathogenesis A high-resolution, Treating Retinitis Genome wide Large-scale association study of and treatment of genome-scale pro- Pigmentosa with detection of somatic trans-ethnic ge- Pandemrix-induced esophageal dilation moter ‘interactome’ transcriptional-based mutations in human nome-wide associ- AWARDS narcolepsy in Sweden and gastric epithe- in human T follicular therapeutics muscle stem cells ation study reveals - a possible role for lial hyperplasia in helper cells impli- Enrico M. Surace, TIGEM, Irene Franco, Dept of novel loci, causal mo- glial cell line-derived a mouse model for cates novel effector Pozzuoli (NA), Ita, Italy Biosciences and Nutrition, lecular mechanisms neurotrophic factor cardio-facio-cutane- genes at SLE GWAS Karolinska Inst, Huddinge, and effector genes (GDNF) ous syndrome loci Sweden for kidney function Mia Wadelius, Uppsala Shin-ichi Inoue, Dept of Struan F. Grant, Children’s Andrew P. Morris, Univ of Univ, Uppsala, Sweden Medical Genetics, Tohoku Hosp of Philadelphia, Liverpool, Liverpool, United Univ Sch of Med, Sendai, Philadelphia, PA, USA Kingdom EMPAG Japan

18.00 - Coffee break / Posters / Exhibition 18.30 INFORMATION

18 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME SATURDAY, JUNE 16

TIME GOLD ROOM GENERAL 18.30 PL2 - ‘What’s New?’ Highlight Session 20.00 Chairs: Christine Patch, Joris Veltman

18.30 PL2.1 Genomic sequencing 15,000 healthy elderly individuals - Implications for clinical genetics Paul Lacaze, Public Health Genomics, Monash Univ, Melbourne, Australia SATURDAY

18.45 PL2.2 CRISPR-QTL mapping as a genome-wide association framework for cellular genetic screens of the noncoding genome Molly Gasperini, Univ of Washington, Seattle, WA, USA

19.00 PL2.3 Elimination of aneuploid cells in the early mammalian embryo Shruti Singla, Univ of Cambridge, Cambridge, United Kingdom SUNDAY 19.15 PL2.4 SLC10A7 mutations in human and mouse cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects Johanne Dubail, Inst Imagine INSERM U1163, Paris, France

19.30 PL2.5 Local and global chromatin interactions are altered by large genomic deletions associated with human brain development Alexander E. Urban, Stanford Univ, Palo Alto, CA, USA

19.45 PL2.6 MONDAY miR-204 overexpression exerts a protective role in inherited retinal diseases Sandro Banfi, Telethon Inst of Genetics and Med (TIGEM), Pozzuoli, Italy

20.00 Late Breaking Abstracts 2018 Please check the mobile app or the programme for updates.

20.30 - Opening Networking Mixer (Outside Balcony and Main Entrance) TUESDAY 22.00

Presentations highlighted by a grey background are from Young Investigator Award finalists. SATELLITES AWARDS EMPAG

Late Programme Changes All contents are up-to-date as per date of printing. For changes in the scientific programme which occurred after the printing deadline, please consult the website:

https://2018.eshg.org/index.php/programme2018/late-programme-changes/ INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 19 20 ESHG 2018 | Milan, Italy | www.eshg.org SCIENTIFIC PROGRAMME SUNDAY, JUNE 17, 2018

ESHG 2018 | Milan, Italy | www.eshg.org 21 PROGRAMME SUNDAY, JUNE 17

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 08.30 S01 S02 S03 E06 E07 S04 - Prenatal Genetics - DNA damage and Genome Organi- Statistics in Genetic Organoids Genetics of dizziness 10.00 joint with EMPAG repair in cancer zation and Function Research and Diag- Chair: Chairs:

GENERAL Chairs: Chairs: Chairs: nostics Francesca Forzano Maria Jesus Sobrido Sam Riedijk Maurizio Genuardi Alexandre Reymond Chair: Giorgia Girotto Antonio Percesepe Maria Grazia Tibiletti Giorgio Casari Martin Kircher

08.30 S01.1 S02.1 S03.1 E06.1 E07.1 S04.1 Prospective analysis DNA damage and Genome architecture: The Importance Applications scenari- Molecular links of 20,000 cases non coding RNA in mechanisms of 3D of Reproduci- os of Organoids between migraine, reveals that the com- cancer and ageing chromatin folding ble Research in Andrea Manfrin,  vestibulopathies and bined use of cell-free Fabrizio d’Adda di Ana Pombo, Berlin, High-Throughput Lausanne, Switzerland episodic ataxias SATURDAY DNA counting and Fagagna, Milan, Italy Germany Biology Joanna Jen, Los Angeles, size measurement Keith Baggerly, Austin, CA, USA improves specificity TX, USA of NIPT Rossa Chiu, Hong Kong, Hong Kong

09.00 S01.2 S02.2 S03.2 S04.2 SUNDAY Mommy and me se- Differential DNA hoxDs, TADs and limb Genetic basis of quencing: incidental repair across human patterning Meniere’s disease detection of maternal chromosomes shapes Guillaume Andrey, Jose Antonio Lopez- abnormalities via somatic mutation Lausanne, Switzerland Escamez, Granada, Spain non-invasive prena- landscapes tal testing Fran Supek, Barcelona, 09.15 Diana Bianchi, Rockville, Spain E06.2 E07.2 MD, USA Statistics in genetic On the self-engineer- MONDAY diagnostics ing of embryonic Chloé-Agathe Azencott, stem cells Paris, France Alfonso Martinez- Arias, Cambridge, United Kingdom 09.30 S01.3 S02.3 S03.3 S04.3 Supporting informed Functional Cancer Transgenerational An approach to choice for non-inva- Genetics inheritance: restoring vestibular TUESDAY sive prenatal testing René Bernards, The role of CTCF and function? in clinical practice: Amsterdam, Netherlands 3D genome organi- Andrew Forge, London, How well are we zation United Kingdom doing? Victor Corces, Emory Univ, Celine Lewis, London, Atlanta, GA, USA United Kingdom

10.00 - Coffee break / Poster viewing / Exhibition SATELLITES 10.15 10.15 - Poster Viewing with authors and coffee (Group A) 11.15 11.15 - Corporate Satellites 13.00 Lunch break / Posters / Exhibition

AWARDS (see page 45 for details) EMPAG INFORMATION

22 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME SUNDAY, JUNE 17

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 GENERAL 13.00 C07 C08 C09 C10 C11 C12 - NGS diagnostics Population Genetics Mendelian chromatin Best Poster Session 1 Metabolic and Mito- Skin and Bones 14.30 Chairs: Chairs: disorders Chairs: chondrial Disorders Chairs: Hans Scheffer Inga Prokopenko Chairs: Carla Oliveira Chairs: Marta Bertoli Maria Iascone Alberto Piazza André Reis Joris Veltman Milan Macek Marco Castori Giuseppe Merla Nicola Brunetti-Pierri SATURDAY 13.00 C07.1 C08.1 C09.1 C11.1 C12.1 Reanalysis of un- Genome-wide Mutations in the The 28 Best Posters De novo mutations in Functional analysis solved WGS clinical gene-based analyses BAF-complex subunit were selected for SLC25A24 cause a dis- of large numbers of cases from the NIHs identifiesANK1 as a DPF2 are associated a short presentation order characterized non-coding variants undiagnosed diseas- modulator of weight with Coffin-Siris during two concurrent by early aging, bone from WGS studies by es network (UDN) loss in obese patients syndrome sessions. dysplasia, character- massively parallel Elizabeth A. Worthey, Armand Valsesia, Nestlé Georgia Vasileiou, Inst of istic face, and early cis-regulatory assays. HudsonAlpha institute, Inst of Health Sciences SA, Human Genetics, Friedrich- The poster authors will demise (Fontaine Malte Spielmann, Univ huntsville, AL, USA Lausanne, Switzerland Alexander-Univ Erlangen- have 3 minutes each syndrome) of Washington, Seattle, SUNDAY Nürnberg, Erlangen, Karin Writzl, Clinical Inst WA, USA Germany to present their most important findings in a of Medical Genetics, Univ Medical Ctr, Ljubljana, lecture hall. Slovenia

13.15 C07.2 C08.2 C09.2 After the presentation C11.2 C12.2 Finding missing Insights from the Novel neurodevel- of all posters (approxi- miR-181a and miR- Identification of diagnoses in exome largest genetic study opmental syndrome mately at 13.45 hrs), 181b Downregula- somatic activating sequence data of sexual orientation due to de novo mu- the authors and the tion Protects From PIK3CA mutations in MONDAY Caroline F. Wright, Inst Andrea Ganna, Broad tations in chromatin audience will proceed Mitochondria-asso- patients with gen- of Biomedical and Clinical institute, Cambrdige, MA, remodeler CHD3 in to the electronic post- ciated Neurodegen- eralized lymphatic Science, Exeter, United USA 35 patients ers directly below the eration by enhancing anomaly Kingdom Lot Snijders Blok,  lecture hall for discus- mitochondrial Lara Rodriguez Laguna,  Radboud Univ Medical Ctr, sion with the authors biogenesis and mito- INGEMM-CIBERER-idiPAZ, Nijmegen, Netherlands for the remainder of phagy Hosp Univrio La Paz, the session. Sabrina Carrella, Telethon Madrid, Spain

Inst of Genetics and Med- TUESDAY Please find the list of TIGEM, Pozzuoli, Italy presentations in this 13.30 C07.3 C08.3 C09.3 C11.3 C12.3 session on page 25. Inferring compound Genome-wide Germline mutations The genetic land- A mutant ATP6V1E1 heterozygotes from association of bone on the histone H4 scape of mitochon- zebrafish model reca- large-scale exome mineral density in core cause a develop- drial disease: a study pitulates the human sequencing data the UK Biobank full mental syndrome by of 1116 exomes cutis laxa syndrome Laurent C. Francioli,  release identifies affecting DNA dam- Sarah L. Stenton, Inst of Lore Pottie, Ctr for SATELLITES Massachusetts General 301 novel loci and age response and cell Human Genetics, Klinikum Medical Genetics, Gent, Hosp, Boston, MA, USA implicates DAAM2 in cycle control rechts der Isar, Technische Belgium osteoporosis Gijs van Haaften, Univ München, München, Germany John A. Morris, McGill UMC Utrecht, Utrecht, Univ, Montreal, Canada Netherlands

13.45 C07.4 C08.4 C09.4 C11.4 C12.4 Next Generation Chil- Low pass genomes Examination of the Novel genes associat- Recessive spon-

dren Project: Whole of 141,431 Chinese landscape of histone ed with severe mito- dylocarpotarsal AWARDS genome sequencing reveal patterns of lysine methylases chondrial disorders syndrome due to for rapid diagnosis of viral infection, novel and demethylases in Paramasivam compound heterozy- severely ill children phenotypic associa- human developmen- Arumugam, CCMB, gosity for variants in in intensive care tions, and the genetic tal disorders leads Hyderabad, India MYH3 Courtney E. French, Univ history of China to identification of Stephen P. Robertson,  of Cambridge, Cambridge, Siyang Liu*, BGI- novel syndromes Dunedin Sch of Med, United Kingdom Shenzhen, Shenzhen, China Víctor Faundes, Dunedin, New Zealand Manchester Ctr for Genomic Med, Div of EMPAG Evolution & Genomic Sciences, Sch of Biological Sciences, Faculty of Biology, Med and Health, Univ of Manchester, Manchester, United Kingdom INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 23 PROGRAMME SUNDAY, JUNE 17

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 cont. C07 C08 C09 C10 C11 C12 NGS diagnostics Population Genetics Mendelian chromatin Best Poster Session 1 Metabolic and Mito- Skin and Bones disorders chondrial Disorders GENERAL 14.00 C07.5 C08.5 C09.5 C11.5 C12.5 Rapid Whole Genome Imputation and De novo germline The 28 Best Posters A homozygous two Mutations in the Sequencing Improves de novo variant variants in Histone were selected for exon deletion in Epithelial Cadherin Clinical Utility and discovery from low- 3 Family 3A (H3F3A) a short presentation UQCRH: matching p120 Catenin Compl- Cost Effectiveness of pass whole genome and Histone 3 Family during two concurrent mouse and human exCause Mendelian Acutely Ill Children sequencing data 3B (H3F3B) associ- sessions. phenotype Non-Syndromic Cleft admitted to Neonatal for cost-effective ated with a severe Silvia Vidali, Inst Lip and Palate Intensive Care Units and scalable trait neurodegenerative of Human Genetics, Tony Roscioli, Univ of New

SATURDAY The poster authors will Technische Univ München, Shareef Nahas, Rady mapping disorder with unique have 3 minutes each South Wales, Randwick, Munich, Germany Australia Children’s Inst for Genomic Joseph Pickrell, Gencove, functional effect dif- to present their most Med, San Diego, CA, USA Inc., New York, NY, USA ferent from somatic important findings in a mutations lecture hall. Elizabeth J. Bhoj, Children’s Hosp of Philadelphia, Philadelphia, After the presentation PA, USA of all posters (approxi- SUNDAY mately at 13.45 hrs), 14.15 C07.6 C08.6 C09.6 the authors and the C11.6 C12.6 Experiences of the Prioritising genes of De novo mutations in audience will proceed Mutations in phos- Somatic activating Dutch diagnostic interest from whole the SET nuclear pro- to the electronic post- phopantothenoyl- mutations in MAP2K1 data share consor- genome sequences to-oncogene (SET), ers directly below the cystein synthetase cause melorheostosis tium; limits of the to maximise diagnos- encoding a compo- lecture hall for discus- (PPCS) cause dilated Joan C. Marini, Section on current 5-tier classifi- tic yield; the experi- nent of the inhibitor sion with the authors cardiomyopathy Heritable Disorders of Bone cation system ence of the 100,000 of histone acetyl- for the remainder of Arcangela Iuso, Inst and Extracellular Matrix,

MONDAY Marielle E. van Gijn, Dept genomes project transferases (INHAT) the session. of Human Genetics, Natl Inst of Child Health and Human Development, of Genetics, Univ Medical Helen K. Brittain,  complex in patients Technische Univ München, Munich, Germany Natl Insts of Health, Ctr Utrecht, Utrecht, Genomics England, with non-syndromic Please find the list of Netherlands Bethesda, MD, USA London, United Kingdom intellectual disability presentations in this (ID) session on page 25. Servi J. Stevens, Dept of Clinical Genetics, Maastricht Univ Medical Ctr, Maastricht, TUESDAY Netherlands

14.30 - Fruit break / Poster viewing / Exhibition 15.00

Presentations highlighted by a grey background are from Young Investigator Award finalists. SATELLITES AWARDS EMPAG INFORMATION

24 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME SUNDAY, JUNE 17

TIME BROWN 3 GENERAL 13.00 C10 - Best Poster Session 1 14.30 Chairs: Carla Oliveira, Joris Veltman

P15.05A Comprehensive prediction of responses to chemotherapies by biochemically-inspired machine learning

Peter K. Rogan, Univ of Western Ontario, London, Canada SATURDAY

P15.27C Establishment of tumor-derived organoids: an approach to personalized medicine María Ovejero-Sánchez, Molecular Med Unit. Dept of Med. Univ of Salamanca., Salamanca, Spain

P15.03C Correction of splice mutation in COL6A1 gene with novel antisense oligonucleotides as prototype for other orphan geneticdiseases Dina Yagel, Metabolic Disease Unit, Edmond and Lily Safra Children’s Hosp, Sheba Medical Ctr, Tel-Hashomer, Ramat Gan, Israel SUNDAY P15.11C Modulation of cGMP and cAMP as a new therapeutic target for Fragile X Syndrome Barbara Bardoni, Inst de Pharmacologie Moléculaire et Cellulaire, Valbonne, France

P15.41A 800 exomes for rare disease research: outcomes of the transnational BBMRI-LPC WES call in collaboration with EuroBioBank and RD-Connect Steven Laurie, Ctr Nacional de Análisis Genómico (CNAG-CRG), Ctr for Genomic Regulation; Barcelona Inst of Science and Technology (BIST); Univ Pompeu Fabra (UPF), Barcelona, Spain MONDAY

P17.06B Inhibition of histone deacetylation up-regulates the repressed paternal allele of the imprinted Kcnk9 gene and improves the behavioral phenotype of a mouse model of Birk-Barel syndrome Alexis Cooper, Inst of Human Genetics, Univ Medical Ctr, Johannes Gutenberg Univ, Mainz, Germany

P11.017A Efficient CrispR/Cas9-based nucleotide editing to model cardiovascular anomalies of Cantú syndrome in zebrafish Helen I. Roessler, Dept of Genetics, Ctr for Molecular Med, Univ Medical Ctr Utrecht, Utrecht, Netherlands TUESDAY

P17.58B A CTCF- dependent chromatin interaction ensures robust enhancer - promoter communication at the Shh locus Christina Paliou, Max Planck for Molecular Genetics, Berlin, Germany

P17.22B chromatin landscape of D4Z4 repeat interactome unveils a muscle atrophy signature in facioscapulohumeral dystrophy Alice Cortesi, Istituto Nazionale di Genetica Molecolare, Milan, Italy SATELLITES

P18.34B Genetic landscape of kidney function: results from a trans-ethnic genome-wide association meta-analysis of >750,000 individuals. Cristian Pattaro, Eurac Res, Inst for Biomedicine, Bolzano, Italy

P18.12D Multi-phenotype genome-wide meta-analysis of lipid levels and BMI in 64,736 Europeans suggests shared genetic architecture Marika Kaakinen, Imperial Coll London, London, United Kingdom AWARDS P18.25A The eQTLs Catalog and LinDA browser: a platform for prioritising target genes of GWAS variants Mauro Pala, Istituto di Ricerca Genetica e Biomedica - Consiglio Nazionale delle Ricerche, Cagliari, Italy

P18.48D Predicting rare allele carriers from genotyping-array data using whole genome sequencing data in the Estonian population Timo Tõnis Sikka, Univ of Tartu, Tartu, Estonia

P18.77A EMPAG Deletions at 63 GWAS catalog loci based on genome-wide 1000 Genomes project CNV-tagging SNPs Elena Loizidou, Imperial Coll London, London, United Kingdom

The 28 Best Posters were selected for a short presentation during two concurrent sessions.

In this session, best posters from topics 11, 15, 17 and 18 will be presented. INFORMATION The poster authors will have 3 minutes each to present their most important findings in a lecture hall.

After the presentation of all posters (approximately at 13.45 hrs), the authors and the audience will proceed to the electronic posters directly below the lecture hall for discussion with the authors for the remainder of the session.

ESHG 2018 | Milan, Italy | www.eshg.org 25 PROGRAMME SUNDAY, JUNE 17

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 AMBER 7+8 15.00 W05 W06 W07 W08 W09 W10 W11 Corporate - Dysmorphology Pharmacog- Exome UCSC Genome Prenatal Hereditary Recontacting in Satellites 16.30 (see page 45 Organisers: enomic testing: sequencing and Browser Diagnosis cancer: hot genetics - joint for details) GENERAL Dian Donnai gene panel, variant inter- Organiser: Organisers: topics in with EMPAG Jill Clayton-Smith whole exome pretation Robert Kuhn Ida Vogel diagnostics, Organisers: Sofia Douzgou or whole Organisers: Joris Vermeesch counselling and Elisabetta Razzaboni genomes? Christian Gilissen research Francesca Forzano Organisers: Malte Spielmann Organisers: Vita Dolzan Conxi Lazaro William Newman Laura Valle Nicoline Hoogerbrugge SATURDAY Once again we Speakers: Although exome UCSC Genome Presentations 15.00 Discussants: invite those Ellie McDonagh sequencing is now Browser -- new last 12 minutes Introduction by EU survey on re- working in the Genomics England, routinely available features from an and 3 minutes for the chairwomen contacting and EU field of syndrome Queen Mary’s both for research old friend questions. The 15.05 recommendations diagnosis to bring University London, and clinical The UCSC Genome last 30 minutes Germline or on recontacting along short slide UK purposes, the Browser has been of the session will somatic tumour Prof. Peter presentations of Marjolein Kriek, interpretation of used by researchers be an interactive testing first to Turnpenny their distinctive Leiden University, identified variants session on prenatal SUNDAY in genomics for 18 detect hereditary Recontacting in unsolved cases Netherlands remains a major years. diagnostics of cancer? or instructive and challenge. tomorrow with research practice This workshop During that time Prof. Marjolijn and in Biobanks solved cases to the will explore the In this workshop the audience Ligtenberg, PhD, Dysmorphology it has evolved -- and the speakers Prof. Deborah resources available we will address the mainly by adding Molecular geneticist Mascalzoni workshop to be to scientists and technical, statistical (consisting of an held at the ESHG in new features and obstetrician, a 15.20 Legal aspects of healthcare profes- and biological the occasional mild Interactive Milan. sionals to select considerations molecular biologist, recontacting overhaul. an anthropologist discussion Prof. Emmanuelle Presentations genes that have that need to be with workshop should include no clinical relevance in taken into account Our latest and lastly a clinical Rial-Sebbag

MONDAY participants using more than 6 slides predicting adverse when interpreting enhancements geneticist) include features smartphone voting and you should drug reactions and variants from Genetic Associa- system aim to present your drug efficacy (phar- exome sequencing, relevant to those tions with Gesta- case in 3 minutes macogenomics). and illustrate their interested in RNA- tional Duration 15.30 leaving some time importance by real- seq data -- either and Spontaneous Genetic counsel- There are varying their own or those ling: when somatic for discussion. levels of evidence life examples. Preterm Birth from the GTEx B. Jacobsson tumour testing Your slides should that support clinical 15.00-15.05 Consortium. and germline cover the main utility and these Welcome and The diagnostic mutations meet. points of the will be presented opening remarks The Browser effect of the TUESDAY offers the option Prof. Rolf Sijmons, history, include and examined. Malte Spielmann introduction of MD, PhD, Clinical good quality of viewing exons NIPT in a labo- How confident 15.05-15.25 only -- useful in geneticist clinical photos should we be Technical consid- ratory where a of the most both RNA-seq routine SNP array 15.45 in a drug-gene erations for inter- and whole-exome Interactive distinctive features relationship before preting variants is offered to all and give results sequencing. pregnancies un- discussion we offer this as a Christian Gilissen with workshop of investigations clinical test? The GTEx data are dergoing invasive previously 15.25-15.45 available as a direct testing participants using undertaken. Statistical view of tissue- M.I. Srebniak smartphone voting considerations system

SATELLITES There are many specific and allele- Although we don’t for interpreting ‘...but we found necessarily expect approaches to specific expression something else’. A 16.00 providing clinical variants across the entire Research gaps in every patient to Hilary Martin qualitative study have had whole pharmacogenetic genome from 53 of the interaction hereditary cancer: exome or genome testing – by panels, 15.45-16.05 tissues from 570 between pregnant what to address in sequencing, extracted from Cases from the donors. couples and the years to come. cases must have exome or genome clinic – 1 It is also possible clinical geneti- Sir Prof. John Burn, undergone sequence data or Anita Rauch to format your cists following MD, PhD, Clinical by biochemical geneticist

AWARDS a reasonable 16.05-16.25 own data into this a susceptibility investigative assays. Cases from the barChart format. variance result. 16.15 work-up before We will consider the clinic – 2 S. Lou Interactive presenting. current optimum Helger Yntema Fetal cells in ma- discussion approaches and 16.25-16.30 ternal blood with workshop how this may Closing remarks I. Vogel participants using develop in the Malte Spielmann smartphone voting future. 30 min panel system discussion 16.25

EMPAG on prenatal diagnostics of Concluding tomorrow remarks

16.30 - Coffee break / Poster viewing / Exhibition 16.45 16.45 - Poster Viewing with authors and coffee (Group B) 17.45 INFORMATION

26 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME SUNDAY, JUNE 17

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 GENERAL 17.45 S05 S06 S07 S08 E08 E09 - Large-scale genetic Liquid biopsies in Drug repurposing Microbiome and Congenital vascu- Iron in the brain 19.15 studies in complex cancer for treating genetic Virome lopathies Chair: diseases Chairs: disorders Chairs: Chair: Yanick Crow Chairs: Jose L. Costa Chairs: Malte Spielmann Maria Jesus Sobrido Samuli Ripatti Paola Ghiorzo Enza Maria Valente Valeria Capra

Giuseppe Matullo Paolo Gasparini SATURDAY

17.45 S05.1 S06.1 S07.1 S08.1 E08.1 E09.1 Genetic discovery Tracking the Evolu- Drug repurposing to Natural selection in Etiology of vascular NBIA - an overview and translation in tion of Non-Small- improve cognitive humans and patho- malformations: Belén Perez Dueñas, Inflammatory Bowel Cell Lung Cancer defects in Down gens: sequencing the A question of place Barcelona, Spain Disease Thomas Wurdinger, syndrome next deadly virus and timing Mark Daly, Boston, MA, London, United Kingdom Laura Cancedda, Genova, Kristian Andersen, La Miikka Vikkula, Brussels, USA Italy Jolla, CA, USA Belgium SUNDAY 18.15 S05.2 S06.2 S07.2 S08.2 Large-scale sequenc- Whole-genome se- Drug repurposing for Sequencing Ebola ing studies in coro- quencing of plasma breast cancer preven- and Zika in real time nary artery disease DNA tion in BRCA1-muta- Nicholas Loman,  18.30 Heribert Schunkert,  Michael Speicher, Graz, tion carriers Birmingham, United E08.2 E09.2 Munich, Germany Austria Emma Nolan, London, Kingdom Clinical management NBIA - new angles United Kingdom of vascular malfor- Agnès Rötig, Imagine Inst, mations Paris, France MONDAY 18.45 S05.3 S06.3 S07.3 S08.3 Laurence Boon, Brussels, Harnessing large- Liquid Biopsies for Online tools to find Whole-genome Belgium scale genetics and Monitoring Temporal repurposed drugs sequencing of patho- genomics to derive Genomic Heteroge- Joel T. Dudley, New York, gens in the clinic biological insights in neity NY, USA Judith Breuer, London, type 2 diabetes Giulia Siravegna, Torino, United Kingdom Mark McCarthy, Oxford, Italy United Kingdom TUESDAY

TIME YELLOW 1+2 SATELLITES 19.30 Corporate Satellites ESHG Membership Meeting - (see page 45 for details) 20.30 All ESHG members welcome! AWARDS EMPAG

Late Programme Changes All contents are up-to-date as per date of printing. For changes in the scientific programme which occurred after the printing deadline, please consult the website:

https://2018.eshg.org/index.php/programme2018/late-programme-changes/ INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 27 28 ESHG 2018 | Milan, Italy | www.eshg.org SCIENTIFIC PROGRAMME MONDAY, JUNE 18, 2018

ESHG 2018 | Milan, Italy | www.eshg.org 29 BECOME AN E S H G M E M B E R

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or join online at www.eshg.org GreatVectors PROGRAMME MONDAY, JUNE 18

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 GENERAL 08.30 S09 S10 E10 S11 S12 E11 - New Genomic Tech- No pathogenic Genetics of infertility Epigenetics of the Retinal diseases Premature ageing 10.00 nologies variant detected - Chair: brain Chairs: Chair: Chairs: What next? Maris Laan Chairs: Valerie Cormier-Daire Karin Writzl Martin Kircher Chairs: Lucia Migliore Sandro Banfi Marco Tartaglia Lucy Raymond Monica Miozzo

Marco Seri SATURDAY

08.30 S09.1 S10.1 E10.1 S11.1 S12.1 E11.1 Applications and Polygenic transmis- Genetic basis of Epigenetic mech- Non-coding variation The ageing process analysis methods for sion disequilibrium male reproductive anisms regulating in inherited retinal Jan Hoeijmakers, nanopore sequenc- confirms that com- disorders energy balance dystrophies Rotterdam, Netherlands ing data mon and rare varia- Csilla Krausz, Dept. of Robert A. Waterland, Elfride De Baere, Ghent, Jared Simpson, Toronto, tion act additively to Experimental and Clinical Houston, TX, USA Belgium Canada create risk for autism Biomedical Sciences “Mario Serio”; Univ of Florence,

spectrum disorders SUNDAY Florence, Italy Elise Robinson, Broad Inst, Cambridge, MA, USA

09.00 S09.2 S10.2 S11.2 S12.2 Whole organism Genetic diagno- Epigenetic therapies Monosymptomatic lineage tracing sis of Mendelian for neurodegenera- and syndromic child- Alexander F. Schier, Diorsorder via RNA tive and neuropsychi- hood-onset severe Cambridge, MA, USA sequencing atric diseases retinal dystrophies: 09.15 E10.2 E11.2 MONDAY News and Views Holger Prokisch, Munich, Genetic basis of Andre Fischer, Treatment strategies Germany Goettingen, Germany female reproductive Jean-Michel Rozet, Paris, for premature aging France disorders Brian K. Kennedy, Singapore, Singapore 09.30 S09.3 S10.3 Lawrence C. Layman, S11.3 S12.3 Augusta, GA, USA Genome-wide iden- Pathogenic variants Epigenetics of major Seeing disease tification of human that alter protein psychiatric disease: through stem cells: non-coding variants code often disrupt the circadian using patient iPSC to that affect regulatory splicing perspective understand disease TUESDAY elements William G. Fairbrother,  Arturas Petronis, Toronto, mechanisms and test Bas van Steensel,  Providence, RI, USA Canada therapies Amsterdam, Netherlands Michael Cheetham,  London, United Kingdom

10.00 - Coffee break / Poster viewing / Exhibition 10.15 SATELLITES 10.15 - Poster Viewing with authors and coffee (Group C) 11.15 11.15 - Corporate Satellites 13.00 Lunch break / Posters / Exhibition (see page 45 for details) AWARDS EMPAG INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 31 PROGRAMME MONDAY, JUNE 18

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 13.00 C13 C14 C15 C16 C17 C18 - Prenatal and Repro- Cancer genetics Syndrome updates 2 Multi-omics 2 Intellectual Cardiovascular 14.30 ductive Genetics Chairs: Chairs: Chairs: disability 1 disorders

GENERAL Chairs: Reiner A. Veitia Julie McGaughran Trine Prescott Chairs: Chairs: Philippos Patsalis Judith Grollemann Fiorella Gurrieri Maria Giuseppina Miano Kinga Hadzsiev Bart L. Loeys Antonio Novelli Marcella Zollino Valeria Novelli

13.00 C13.1 C14.1 C15.1 C16.1 C17.1 C18.1 Implementing NIPT Tet1 and Tdg The ARID1B High throughput De novo mutations in A novel murine mod- as part of a national suppress intestinal spectrum: From characterization of protein kinase genes el for arrhythmogen- prenatal screening tumorigenesis by non-syndromic intel- genetic effects on CAMK2A and CAMK2B ic cardiomyopathy program: The Dutch downregulating the lectual disability to DNA:protein binding cause intellectual points to a pathogen- SATURDAY TRIDENT studies inflammatory and Coffin-Siris syndrome and gene transcrip- disability ic role of Wnt/b-cat- Marjan M. Weiss, Dept of immune responses Gijs W. Santen, Leiden tion Sébastien Küry, CHU de enin signaling and Clinical Genetics, VU Univ in the ApcMinmouse Univ Medical Ctr, Leiden, Francesca Luca, Wayne Nantes, Nantes, France miRNA dysregulation Medical Ctr, Amsterdam, model Netherlands State Univ, Detroit, MI, USA Martina Calore, Dept Netherlands Rossella Tricarico, Cancer of Cardiology, Faculty Epigenetics Program, of Health, Med and Life Fox Chase Cancer Ctr, Sciences, Maastricht Univ, Philadelphia, PA, USA Maastricht, Netherlands SUNDAY 13.15 C13.2 C14.2 C15.2 C16.2 C17.2 C18.2 Rapid Prenatal Lynch syndrome fam- Novel gene and A pedigree-based es- Rotatin mutations Large-scale me- Diagnosis through ilies with heritable pathomechanism in timate of the human impair bipolar mitot- ta-analysis of GWAS Targeted Exome Se- constitutional epi- Cornelia de Lange germline retrotrans- ic spindle formation in over one million quencing: A Cohort mutation reveal the syndrome position rate leading to a wide individuals identifies study diversity of genetic Ilaria Parenti, Section for Julie E. Feusier, Univ of spectrum of brain more than 1,000 Natalie Chandler, North events associated Functional Genetics at the Utah, Salt Lake City, UT, malformations novel independent Inst of Human Genetics, USA MONDAY Thames NHS Regional with methylation of Laura V. Vandervore,  variants associated Genetics Service, Great MLH1 promoter Univ of Lübeck, Lübeck, Neurogenetics Res Group, with blood pressure Germany Ormond Street NHS Fndn, Julie Leclerc, Inserm Vrije Univ Brussel, Brussels, Evangelos Evangelou,  London, United Kingdom UMR-S 1172, JPA Res Ctr, Belgium Dept of Hygiene and Lille Univ, and Lille Univ Epidemiology, Univ of Hosp, Dept of Biochemistry Ioannina Medical Sch, and Molecular Biology, Ioannina, Greece Lille, France

TUESDAY 13.30 C13.3 C14.3 C15.3 C16.3 C17.3 C18.3 Temporal dynamics Oxidative modifica- New models for Multivariate analysis Dual molecular Whole genome of placental gene tion of cell-free DNA human diseases from of immune pheno- effects of dominant sequencing improves expression fragments promotes the International types reveals novel RORA mutations genetic testing out- Mario Reiman, Inst their penetration Mouse Phenotyping genetic and context cause two variants of comes in hypertroph- of Biomedicine and into stem and cancer Consortium specific genetic syndromic intellectu- ic cardiomyopathy Translational Med, Tartu, cells and activates Pilar Cacheiro, William factors for cytokine al disability with ei- Richard D. Bagnall, Estonia adaptive response Harvey Res Inst, Queen production capacity ther autistic features Centenary Inst, Sydney, Vasilina Sergeeva, Mary Univ of London, Raul Aguirre-Gamboa,  or cerebellar ataxia Australia SATELLITES FSBI “Res Ctr For Medical London, United Kingdom Univ of Groningen, Univ Xenia Latypova, Service Genetics”, Moscow, Russian Medical Ctr Groningen, de Génétique Médicale, Federation Dept of Genetics, CHU Nantes, Nantes, Groningen, Groningen, France Netherlands

13.45 C13.4 C14.4 C15.4 C16.4 C17.4 C18.4 Assessing the land- Accurate functional Thrombocytope- Time informative Description of novel Germline loss-of-

AWARDS scape of selfishde classification of thou- nia Microcephaly markers to date intellectual disability function mutations novo mutations in sands of BRCA1 vari- Syndrome - a novel ancient Skeletons genes involved in in EPHB4 cause human testes ants with saturation phenotype asso- Umberto Esposito,  RNA metabolism a second form of Geoffrey J. Maher, Univ genome editing ciated with ACTB Dept of Animal and Plant Francesca Mattioli,  capillary malforma- of Oxford, Oxford, United Gregory M. Findlay, Univ mutations Sciences, Univ of Sheffield, IGBMC, Illkirch, France tion-arteriovenous Kingdom of Washington, Seattle, Nataliya Di Donato, Sheffield, United Kingdom malformation (CM- WA, USA Inst for Clinical Genetics, AVM2) deregulating TU Dresden, Dresden, RAS-MAPK signaling EMPAG Germany Nicole Revencu, Ctr for Human Genetics, Cliniques universitaires St-Luc (CUSL), Univ catholique de Louvain (UCL), Brussels, Belgium INFORMATION

32 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME MONDAY, JUNE 18

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 GENERAL cont. C13 C14 C15 C16 C17 C18 Prenatal and Repro- Cancer genetics Syndrome updates 2 Multi-omics 2 Intellectual Cardiovascular ductive Genetics disability 1 disorders

14.00 C13.5 C14.5 C15.5 C16.5 C17.5 C18.5 X-chromosome A whole-exome The Genomic Autop- A homozygous loss- OTUD7A regulates Association of mod-

exome sequencing in case-control study of sy Study: using ge- of-function mutation neurodevelopmental ifiers and other ge- SATURDAY highly selected idio- soft-tissue sarcoma nomics as an adjunct in C17orf62 causes phenotypes in the netic factors explain pathic azoospermic Chad D. Huff, The Univ of to standard autopsy chronic granuloma- 15q13.3 microdele- Marfan syndrome patients: identifi- Texas MD Anderson Cancer to unlock the cause tous disease tion syndrome clinical variability cation of novel and Ctr, Houston, TX, USA of complex fetal and Gudny A. Arnadottir,  Uddin Mohammed, Melodie Aubart, LVTS recurrent genetic neonatal presenta- deCODE genetics / Amgen, Mohammed Bin Rashid INSERM U1148, Paris, factors for early sper- tions Reykjavik, Iceland Univ of Med and Health France matogenic failure Christopher P. Sciences, Dubai, United Arab Emirates Antoni Riera-Escamilla, Barnett, Paediatric and

Andrology Dept, Fundació Reproductive Genetics Unit, SUNDAY Puigvert, Univ Autònoma Women’s and Children’s de Barcelona, IIB-Sant Pau, Hosp, North Adelaide, Barcelona, Spain Australia

14.15 C13.6 C14.6 C15.6 C16.6 C17.6 C18.6 Dysfunctional Rare variants in the Functional Dysregu- The neurodevelop- Abnormal Social and Nationwide study as- SEMA3G signalling Aicardi-Goutières lation of CDC42 Caus- mental 16p11.2 CNVs Cognitive Behavior sociates atrial fibril- underlies familiar syndrome genes es Diverse Develop- have, as yet over- is associated with lation with titin-trun- hypogonadotropic ADAR and RNASEH2B mental Phenotypes looked, mirror effect Inherited Noncoding cating variants MONDAY hypogonadism & de- and a type I inter- Francesca Pantaleoni,  on sexual develop- Mutations in Human Morten S. Olesen, fective GnRH neuron feron signature in Ospedale Pediatrico ment in humans and Accelerated Regions Rigshospitalet, migration glioma and prostate bambino Gesù, Roma, Italy animal models (HARs) Copenhagen, Denmark Anna Cariboni, Dept carcinoma risk and Katrin Mannik, Ctr for Ryan N. Doan, Boston of Pharmacological and tumorigenesis Integrative Genomics, Univ Children’s Hosp, Boston, Biomolecular Sciences, Ruthild G. Weber, of Lausanne, Lausanne, MA, USA Milan, Italy Hannover Medical Sch, Switzerland

Dept of Human Genetics, TUESDAY Hannover, Germany

14.30 - Fruit break / Poster viewing / Exhibition 15.00

Presentations highlighted by a grey background are from Young Investigator Award finalists. SATELLITES AWARDS EMPAG INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 33 PROGRAMME MONDAY, JUNE 18

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 AMBER 7+8 15.00 W12 W13 W14 W15 W16 W17 W18 Corporate - Dysmorphology Genomic Quiz Copy Number Big data Quality Using Ensembl Community Satellites 16.30 (see page 45 supported by - joint with Variant Inter- Organiser: assurance in data and tools: genetics for details) GENERAL next-generation EMPAG pretation and Bertram Müller- NGS - from data a worked Organisers: phenotyping Organisers: Classification Myhsok generation to example Martina Cornel Organisers: Joris Veltman Organisers: Cesare Furlanello data sharing Organiser: Heidi C. Howard Peter Krawitz Alexandre Nicole de Leeuw Organisers: Erin Haskell Sofia Douzgou Reymond Conny van Luca Lovrecic Ravenswaaij Ales Maver

The workshops In an exciting Various aspects Rethinking Deep How much Sanger 15.00 THEME: will focus on but new experiment, of copy number Learning for validation is Introduction to Somatic gene

SATURDAY is not limited to 2 teams as well variant (CNV) Omics Data necessary in NGS Ensembl and the editing complex cases with as the audience interpretation Cesare Furlanello, diagnostics? Variant Effect Treatment of rare facial dysmorphic will test their and classification Fondazione Bruno Peter Bauer Predictor (VEP) diseases using features and known knowledge of the in a diagnostic Kessler, Trento, Italy Ensuring your NGS 15.15 somatic gene ed- diagnoses which ESHG, genetics setting will be Fast GPGPU ma- data quality - the Demonstration iting: the current are particularly and Milan, using discussed in this trix manipulations EQA perspective of using the VEP status. educational and multiple choice interactive session. enabling combina- Sandi Deans webtool Kirmo Wartiovaara demonstrate new questions, Data including torial multi-omics TBA 15.35 Legal/regulatory clinical information. performance acts multi-, intra- and analysis in large SUNDAY Roddy Walsh Hands on experi- aspects: What is Cases for and audience intergenic CNVs data-sets participation, detected by either Genomic Variant mentation: Using needed to launch presentation Beibei Jiang, Max Ensembl tools to genome editing in should be brought in an hopefully genome wide array Planck Institute of Discrepancy Res- entertaining and analysis or in Whole olution: ClinGen’s identify variants the clinic? to the auditorium Psychiatry, Munich, of interest from a Daniel Lim in the break before educative quiz. Exome Sequencing Germany Efforts to Improve data will be the Quality of genetic screen. Gene-Editing the workshop From single-trait starts. presented. Genomic Testing 15.55 Clinical Trials: genomics to mul- Christa Lese Martin Wrap-up and take- What The Sickle Each presenter ti-omics analyses: home messages Cell Disease Com- is asked to give addressing the MONDAY munity Thinks a concise outline missing data issue Vence L. Bonham of their case and Inga Prokopenko, demonstrate Imperial College The role of ge- the relevant London, London, UK netic health care professionals: will features in a short IMI-AETIONOMY: (approximately 6 clinical geneticists a Big Data move to treat- slides) PowerPoint approach inte- presentation. ment? grating data and Heidi Howard

TUESDAY As an additional knowledge in input to the graph models Panel discussion discussion we Martin Hofmann- will provide and Apitius, Fraunhofer explain results Institute for from DeepGestalt Algorithms and (Face2Gene). Scientific Computing (SCAI), Sankt Augustin, Germany

SATELLITES 16.30 - Coffee break / Poster viewing / Exhibition 16.45 16.45 - Poster Viewing with authors and coffee (Group D) 17.45 AWARDS EMPAG INFORMATION

34 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME MONDAY, JUNE 18

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 GENERAL 17.45 S13 S14 S15 E12 E13 S16 - Genome editing Cellular heteroge- Understanding Undiagnosed disease Brain abnormalities Human epigenome 19.15 Chairs: neity in health and non-coding variants and matchmaking in fetal life dynamics Malte Spielmann disease Chairs: initiatives Chair: Chairs: Alessandra Renieri Chairs: Lude Franke Chair: Enza Maria Valente Carla Oliveira Thierry Voet Elisa Giorgio Domenico Coviello Andrea Riccio

Silvia Russo SATURDAY

17.45 S13.1 S14.1 S15.1 E12.1 E13.1 S16.1 High-resolution Single-cell sequenc- Compensatory Undiagnosed Disease Defects of the corpus Single cell epigenom- interrogation of ing to understand changes ge- Program at NIH and callosum ics to study heteroge- functional elements the biology of cellu- nome-wide the Undiagnosed Christel Depienne, Paris, neity in development in the noncoding lar heterogeneity in Shamil Sunyaev,  Disease Network France and ageing genome health and disease Cambridge, MA, USA William A. Gahl, Wolf Reik, Hinxton, United Neville Sanjana, New Stephen Quake, Stanford, Bethesda, MD, USA Kingdom

York Genome Ctr & NYU, CA, USA SUNDAY New York, NY, USA

18.15 S13.2 S14.2 S15.2 S16.2 Reducing off-tar- Dissecting the spatio- Non-coding repeat Epigenetics, aging gets in CRISPR/Cas9 temporal subcellular insertion in human and age-related genome editing distribution of the disease disorders 18.30 Anna Cereseto, Ctr for human proteome Isabel Silveira, Porto, E12.2 E13.2 Mario F. Fraga, Cáncer Integrative Biology, Trento, Emma Lundberg, Portugal A User Guide to Defects of the cere- Epigenetics Lab, CINN-CSIC, MONDAY Italy Stockholm, Sweden Matchmaking bellum ISPA, IUOPA, Oviedo, Spain Helen Firth, Cambridge, William Dobyns, Seattle, 18.45 S13.3 S14.3 S15.3 United Kingdom WA, USA S16.3 Gene Therapy for Evolutionary selec- Title to be announced Dynamics of epige- Preventing Heritable tion of oncogenic Speaker to be announced netic marks in early Diseases mutant clones in human development Shoukhrat Mitalipov, normal epithelia Arne Klungland, Oslo, Portland, OR, USA Philip Jones, Hinxton, Norway

United Kingdom TUESDAY

20.00 Networking Event (at own expense - ticket required) SATELLITES AWARDS EMPAG

Late Programme Changes All contents are up-to-date as per date of printing. For changes in the scientific programme which occurred after the printing deadline, please consult the website:

https://2018.eshg.org/index.php/programme2018/late-programme-changes/ INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 35 36 ESHG 2018 | Milan, Italy | www.eshg.org SCIENTIFIC PROGRAMME TUESDAY, JUNE 19, 2018

ESHG 2018 | Milan, Italy | www.eshg.org 37 ESHG 2019 MARK YOUR CALENDARS

EUROPEAN HUMAN GENETICS CONFERENCE 2019 52nd Meeting Gothenburg - Sweden | June 15 - 18

THE EUROPEAN SOCIETY https://2019.eshg.org @eshgsociety OF HUMAN GENETICS facebook.com/eshg.org #eshg2019 PROGRAMME TUESDAY, JUNE 19

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 GENERAL 09.00 S17 E14 S18 S19 E15 E16 - ESHG-ASHG Building Single-cell analysis Regulatory sequence New nanotech- Disorders of sexual Genetics with a Bite 10.30 Bridges Debate: technologies functions and nologies: the DNA development Chair: Germline genome Chair: elements Origami Chair: Brunella Franco editing - joint with Thierry Voet Chairs: Chairs: Alfredo Brusco EMPAG Lude Franke Enza Maria Valente

Chairs: Enrico Maria Surace Antonio Amoroso SATURDAY Joris Veltman Heather Mefford Sam Riedijk

09.00 S17.1 E14.1 S18.1 S19.1 E15.1 E16.1 CRISPR-Cas 9: Single-cell multi-om- The gene expression DNA Origami: Disorders of sex de- Genetics of early Advances and ics: interrogating consequences of building molecular velopment: genetics, tooth development Challenges multiple omic layers mammalian regulato- tools out of DNA diagnostics and clini- and dental disorders

Emmanuelle of the same single ry evolution Bjorn Hogberg, cal management Ophir D. Klein, Stanford, SUNDAY Charpentier, Berlin, cell Camille Berthelot, Paris, Stockholm, Sweden Andrew Sinclair, CA, USA Germany Iain Macaulay, Norwich, France Melbourne, Australia United Kingdom S17.2 Human germline genome editing: the ASHG position statement MONDAY Kelly Ormond, Stanford, CA, USA

S17.3 National Academy of Sciences consen- sus statement on genome editing Luigi Naldini, Milan, Italy TUESDAY

09.30 S17.4 S18.2 S19.2 Societal opportuni- Regulatory principles DNA nanostructures ties and challenges of governing enhancer as innovative vehi- genome editing function during ani- cles for smart drug Alta Charo, Madison, mal development delivery SATELLITES WI, USA Emma Farley, San Diego, Mauri A. Kostiainen,  CA, USA Aalto Univ, Espoo, Finland

Debate E14.2 E15.2 E16.2 Sequencing single Disorders of gonadal A targeted next-gen- cells in situ and adrenal devel- eration sequenc- Mats Nilsson, Uppsala, opment: nuclear ing assay for the Sweden receptor gene muta- molecular diagnosis tions and phenotypic of genetic disorders AWARDS heterogeneity with orodental John C. Achermann,  involvement 10.00 S18.3 S19.3 London, United Kingdom Agnes Bloch-Zupan, Ultraconserved en- Triplex-forming Strasbourg, France hancers are required oligonucleotides: for normal develop- a third strand for ment DNA nanotechnology Diane Dickel, Berkeley, David Rusling,

CA, USA Southampton, United EMPAG Kingdom INFORMATION

10.30 - Coffee break (Auditorium Foyer, Yellow Foyer, Gold Foyer) 11.00

ESHG 2018 | Milan, Italy | www.eshg.org 39 PROGRAMME TUESDAY, JUNE 19

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 11.00 C19 C20 C21 C22 C23 - Advanced sequencing Intellectual Disability 2 Statistical Genetics Best Poster Session 2 Sensory disorders 12.30 technologies Chairs: Chairs: Chairs: Chairs:

GENERAL Chairs: Feliciamo Ramos Christian Gilissen Martina Cornel Angus Clarke Johan den Dunnen Norine Voisin Giovanni Malerba Joris Veltman Miriam Bauwens Vincenzo Nigro

11.00 C19.1 C20.1 C21.1 C23.1 Clinical experience with De novo missense vari- Detection of widespread The 28 Best Posters were Antisense therapy for a shallow whole genome ants in RHOBTB2 cause horizontal pleiotropy selected for a short common corneal dystro- sequencing as a detection a developmental and in causal relationships presentation during two phy ameliorates TCF4re- method for Copy Number epileptic encephalopathy inferred from Mendelian concurrent sessions. peat expansion-mediated SATURDAY Variations in humans, and altered randomization between toxicity Björn Menten, Ctr for Medical levels cause neurological complex traits and dis- The poster authors will have Alice E. Davidson, UCL Inst of Genetics, Ghent Univ Hosp, De defects in Drosophila eases 3 minutes each to present Ophthalmology, London, United Pintelaan 185, B-9000 Ghent, Kingdom Christiane Zweier, Inst of Do Ron, The Charles Bronfman their most important find- Belgium, Ghent, Belgium Human Genetics, FAU Erlangen- Inst for Personalized Med, Icahn ings in a lecture hall. Nürnberg, Erlangen, Germany Sch of Med at Mount Sinai, New York, NY After the presentation of

SUNDAY 11.15 C19.2 C20.2 C21.2 all posters (approximtely at C23.2 An international interlab- Inborn de novo muta- Mendelian randomization 11.45 hrs), the authors and NGS and animal model oratory study of complex tions in NFE2L2 cause a combining GWAS and the audience will proceed reveal SLC9A3R1 as a new variant detection by multisystem disorder in eQTL data reveals new to the electronic posters gene involved in human clinical genetic tests children and adolescents: loci, extensive pleiotropy directly below the lecture age-related hearing loss Stephen Lincoln, Invitae, San From gene identification and genetic determinants hall for discussion with the (ARHL). Francisco, CA to therapy development of complex and clinical authors for the remainder Anna Morgan, Univ of Trieste, Susann Diegmann, Dept of traits of the session. Trieste, Italy

MONDAY Pediatrics and Adolescent Med, Eleonora Porcu, Ctr for Univ Medical Ctr Göttingen, Integrative Genomics, Univ of Please find the list of pres- Göttingen, Germany Lausanne, Lausanne, Switzerland entations in this session on page 42. 11.30 C19.3 C20.3 C21.3 C23.3 A pipeline to detect De novo mutations affect- Equivalence of LD-score Congenital Macular repeat expansions from ing PPP2CA, encoding regression and individu- Dystrophy is caused by whole genome se- the catalytic Cα subunit al-level-data methods non-coding duplications quencing in the 100,000 of PP2A, cause PP2A dys- Ronald de Vlaming, Vrije downstream of the IRXA TUESDAY Genomes Project function and a neurode- Univ Amsterdam, Amsterdam, cluster Kristina Ibanez, Genomics velopmental disorder Netherlands Raquel S. Silva, UCL Inst of England, London, United Sara Reynhout, Lab of Protein Ophthalmology, London, United Kingdom Phosphorylation & Proteomics, Kingdom Dept. of Cellular & Molecular Med, Univ of Leuven (KU Leuven), Leuven, Belgium

11.45 C19.4 C20.4 C21.4 C23.4

SATELLITES Amplification-free, Breaking TADs: Regional heritability Ectopic expression of CRISPR-Cas9 targeted an emerging pathogenic analysis of complex traits GRHL2 due to non-coding enrichment and SMRT mechanism exemplified using haplotype blocks mutations promotes Sequencing of repeat-ex- by Autosomal Dominant defined by natural recom- cell state transition and pansion disease causative demyelinating LeukoDys- bination boundaries causes Posterior genomic regions trophy (ADLD) Richard F. Oppong, IEB, SBS, Polymorphous Corneal Ralph Vogelsang, Pacific Elisa Giorgio, Univ of Torino- Univ of Edinburgh, Edinburgh, Dystrophy 4 Biosciences, Menlo Park, CA, USA Dep Medical Sciences, Torino, United Kingdom Alison J. Hardcastle, UCL Inst of AWARDS Italy Ophthalmology, London, United Kingdom Presentations highlighted by a grey background are from Young Investigator Award finalists. Presentations highlighted by a grey background are from Young Investigator Award finalists. EMPAG

Late Programme Changes All contents are up-to-date as per date of printing. For changes in the scientific programme which occurred after the printing deadline, please consult the website: https://2018.eshg.org/index.php/programme2018/late-programme-changes/ INFORMATION

40 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME TUESDAY, JUNE 19

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 GENERAL cont. C19 C20 C21 C22 C23 Advanced sequencing Intellectual Disability 2 Statistical Genetics Best Poster Session 2 Sensory disorders technologies

12.00 C19.5 C20.5 C21.5 C23.5 The 28 Best Posters were Long-read sequencing - AAV9- CRiSPR/Cas9 Associations of polygenic Whole genome sequenc- selected for a short

for detecting clinically rel- preclinical trial on scores with lipid biomark- ing in patients with SATURDAY presentation during two evant structural variation patient-derived FOXG1 ers in diverse populations ciliopathies uncovers a concurrent sessions. Alexander Hoischen, Dept mutated cells Karoline Kuchenbaecker, Univ novel recurrent tandem of Human Genetics, Radboud Susanna Croci, Medical Coll London, London, United duplication in IFT140 university medical center, Genetics, Univ of Siena, Siena, Kingdom The poster authors will have Jean Muller, U1112, Strasbourg, Nijmegen, Netherlands Italy 3 minutes each to present France their most important find- 12.15 C19.6 C20.6 C21.6 ings in a lecture hall. C23.6 A novel approach using A recurrent de novo PACS2 Two evidence of ongoing Biallelic loss-of-function

long-read sequencing heterozygous missense epistatic selection against After the presentation of all variants in DNMBP cause SUNDAY and ddPCR to investigate variant causes neona- genomic deletions in the posters (approximately at congenital cataract and gonadal mosaicism and tal-onset developmental human population 11.45 hrs), the authors and visual impairment estimate recurrence risk epileptic encephalopathy, Konstantin Popadin, Ctr for the audience will proceed Muhammad Ansar, Dept of in two families with devel- facial dysmorphism and Integrative Genomics, Univ of to the electronic posters Genetic Med and Development, opmental disorders cerebellar dysgenesis. Lausanne, Lausanne, Switzerland directly below the lecture Univ of Geneva, Geneva, Switzerland Sanna Gudmundsson,  Christel Thauvin-Robinet, Ctr hall for discussion with the Immunology, Genetics, de Génétique, FHU TRANSLAD, authors for the remainder

Pathology, Uppsala Univ, CHU de Dijon, Dijon, France of the session. MONDAY Uppsala, Sweden

Please find the list of pres- entations in this session on page 42.

12.30 - Lunch break (Auditorium Foyer, Gold Foyer)

13.30 TUESDAY

TIME GOLD ROOM 13.30 PL3 - Mendel Lecture 14.15 Chairs: Joris Veltman, Gunnar Houge

13.30 PL3.1 SATELLITES CRISPR-Cas9: How bacteria revolutionize genome engineering Emmanuelle Charpentier, Berlin, Germany Laudation by Gunnar Houge

14.15 PL4 - ESHG Award Lecture 15.00 Chairs: Joris Veltman, Gunnar Houge 15.00 PL4.1 AWARDS Causes and consequences of new mutations Matthew Hurles, Hinxton, United Kingdom Laudation by Joris Veltman

15.00 PL5 - Award Ceremony 15.45 Chairs: Joris Veltman, Gunnar Houge • ESHG Honorary Award to Helena Kääriäinen Laudation by Gunnar Houge EMPAG • EJHG-SN Citation Awards • ESHG Young Investigator Awards: -- ESHG Young Investigator Awards for Outstanding Science -- 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 INFORMATION -- 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 • EMPAG Young Investigator Award for the best oral presentation • ESHG Poster Awards in clinical research and basic science • Closing remarks

ESHG 2018 | Milan, Italy | www.eshg.org 41 PROGRAMME TUESDAY, JUNE 19

TIME BROWN 3 11.00 C22 - Best Poster Session 2 12.30 Chairs: Martina Cornel, Joris Veltman GENERAL P02.48C Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa Ilaria D’Atri, RILD Wellcome Wolfson Ctr, Royal Devon & Exeter NHS Fndn Trust, Univ of Exeter, Exeter, United Kingdom

P04.05A Loss of GPNMB causes autosomal recessive amyloidosis cutis dyschromica in humans Chi-Fan Yang, Academia Sinica, Taipei, Taiwan

SATURDAY P06.64D Substrate reduction therapy approach for Sanfilippo C syndrome: use of iPSC and iPSC-derived neurons from patients as cellular models Noelia Benetó, Dept of Genetics, Microbiology and Statistics, Faculty of Biology, Univ of Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain

P06.72D Methylmalonic Aciduria cblB type cellular model: Hepatocyte differentiation from iPSC and pharmacological chaperones evaluation Álvaro Briso-Montiano, Ctr de Biología Molecular (CBM) «Severo Ochoa», Ctr de Diagnóstico de Enfermedades Moleculares, Univ Autónoma de Madrid, Ciberer, Madrid, Spain

SUNDAY P06.35C Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome Benedetta Ruzzenente, Inst Imagine, Paris, France

P06.36D Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency Charlotte L. Alston, Wellcome Ctr for Mitochondrial Res, Newcastle Univ, Newcastle upon Tyne, United Kingdom

MONDAY P09.001A Dissecting tissue-specific functional networks associated with 16p11.2 reciprocal genomic disorder using CRISPR engineered human iPS and mouse models Michael Talkowski, Ctr for Genomic Med and Dept of Neurology, Massachusetts General Hosp, Boston, MA, USA

P09.098B Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy Chiara Aiello, Bambino Gesu’ Children’s Hosp, Rome, Italy

TUESDAY P09.139C SINEUP, a synthetic antisense non-coding RNA-based technology, as possible new therapeutic tool for haploinsufficiency: Autism Spectrum Disorders (ASD) and Epilepsy as Proof-of-Principle Francesca Di, Leva, Neuro Epigenetics laboratory, Ctr for Integrative Biology, Trento, Italy

P12.214B Modeling human hereditary cancer syndromes using CRISPR/Cas9 mediated genome editing in Xenopus tropicalis Kris Vleminckx, Dept of Biomedical Molecular Biology, Ghent, Belgium SATELLITES P12.120D Interrogation of non-coding transcriptome in high-risk susceptibility to familiar cancer Tomas Kirchhoff, New York Univ Sch of Med, New York, NY, USA

P19.24D Genetic counselling in hereditary diffuse gastric cancer: economical and psycho-social impact Luzia Garrido, Ctr Hospar São João, Porto, Portugal AWARDS P20.05A Raw Genomic Data: Storage, Access and Sharing Mahsa Shabani, KU Leuven, Leuven, Belgium

P16.40D Exploring molecular interactions by clustering analysis of similarity scores from next-generation phenotyping approaches Tzung-Chien Hsieh, Inst for Genomic Statistics and Bioinformatics, Bonn, Germany EMPAG

The 28 Best Posters were selected for a short presentation during two concurrent sessions. In this session, best posters from topics 2, 4, 6, 9, 12, 16, 19 and 20 will be presented. The poster authors will have 3 minutes each to present their most important findings in a lecture hall.

After the presentation of all posters (approximately at 13.45 hrs), the authors and the audience will proceed to the electronic posters directly below the lecture hall for discussion with the authors for the remainder of the session. INFORMATION

42 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME INFORMATION SPONSORED SESSION CORPORATE SATELLITE MEETINGS BUSINESS MEETINGS YOUNG INVESTIGATOR AWARD CANDIDATES POSTER AWARD CANDIDATES

ESHG 2018 | Milan, Italy | www.eshg.org 43 PROGRAMME SPONSORED SESSION, Saturday, June 16

Saturday, June 16, 08.00 - 10.00 hrs

TIME GOLD ROOM 08.00 E01 GENERAL - Sponsored Educational Session E01 10.00 NGS in rare disease, infections and cancer Chair: Joris Veltman

08.00 E01.1 Genome sequencing in prostate cancer Mark Rubin, Bern, Switzerland

SATURDAY 08.30 E01.2 Genome sequencing in newborn screening and rare disease Jonathan Berg, Chapel Hill, NC, USA

09.00 E01.3 Genome sequencing in infectious diseases Marc Lecuit, Paris, France SUNDAY 09.30 E01.4 From germline to somatic mutations in neuronal disease Joseph G. Gleeson, San Diego, CA, USA MONDAY TUESDAY SATELLITES AWARDS EMPAG INFORMATION

44 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME CORPORATE SATELLITES

Overview GENERAL

Company Room Stand # Page

Saturday, June 16, 10.00 - 11.30 hrs CS01 – Asuragen Brown 1 Stand # 482 46

Saturday, June 16, 12.15 - 13.45 hrs SATURDAY CS06 – Blueprint Genetics Brown 2 Stand # 426 46 CS05 – Canon BioMedical Brown 1 Stand # 346 46 CS08 – Congenica Amber 2 Stand # 332 46 CS07 – Eppendorf Amber 1 Stand # 384 47

Sunday, June 17, 11.15 - 12.45 hrs CS10 – Agilent Technologies Brown 1 Stand # 310 47 CS13 – Face2Gene Amber 2 Stand # 338 47 SUNDAY CS12 – NIPD Genetics Amber 1 Stand # 382 47 CS11 – QIAGEN Brown 2 Stand # 244 48 CS09 – Thermo Fisher Scientific Amber 3+4 Stand # 350 48

Sunday, June 17, 15.00 - 16.30 hrs CS14 – AstraZeneca Amber 3+4 Stand # 549 48

CS17 – Fabric Genomics Amber 1 Stand # 364 49 MONDAY CS16 – NanoString Technologies Brown 2 Stand # 264 49 CS18 – New England Biolabs Amber 2 Stand # 454 49 CS15 – SOPHiA GENETICS Brown 1 Stand # 528 50

Sunday, June 17, 19.15 - 20.45 hrs CS23 – GE Healthcare Amber 2 Stand # 262 50

CS19 – Illumina Amber 3+4 Stand # 540 50 TUESDAY CS22 – Integrated DNA Technologies Amber 1 Stand # 568 50

Monday, June 18, 11.15 - 12.45 hrs CS24 – Agilent Technologies Amber 3+4 Stand # 310 51 CS25 – CENTOGENE Brown 1 Stand # 362 51 CS26 – Roche Sequencing Solutions Brown 2 Stand # 230 51

CS27 – SISTEMAS GENÓMICOS Amber 1 Stand # 578 52 SATELLITES CS28 – Thermo Fisher Scientific Amber 2 Stand # 350 52

Monday, June 18, 15.00 - 16.30 hrs CS30 – 10x Genomics Brown 1 Stand # 436 52 CS33 – Blueprint Genetics Amber 2 Stand # 426 53 CS32 – FLUIDIGM Amber 1 Stand # 544 53 CS31 – Twist Bioscience Brown 2 Stand # 266 53 AWARDS EMPAG INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 45 PROGRAMME CORPORATE SATELLITES

Saturday, June 16, 10.00 - 11.30 hrs

CS01 – Asuragen, Saturday, June 16, 2018, 10.00–11.30 hrs, Brown 1 Stand # 482

New Frontiers for AmplideX® Technology: Portfolio Expansion to New High Complexity Targets GENERAL Asuragen’s ability to create simple, accurate, and reliable solutions for complex gene targets is founded on its proven AmplideX PCR/CE FMR1 Kit, which revolutionized how FMR1 repeat expansions could be analyzed without the need for Southern blot. Launched in 2009, the FMR1 kit introduced a paradigm shift in how these sequences could be characterized on commonly available laboratory equipment and helped pioneer a greater understanding of how these expansions correlate to fragile X syndrome, as well as associated disorders such as fragile X-associated primary ovarian insufficiency (FXPOI) and tremor/ataxia syndrome (FXTAS). In 2018, Asuragen will extend the reach of the AmplideX technology to similarly challenging genomic targets for which routine analysis remains difficult and decentralized options remain unavailable. In this workshop, the workflow simplicity, throughput scalability, and reliability of results of

SATURDAY the AmplideX PCR/CE DMPK Kit, AmplideX PCR/CE SMN1 Kit, and AmplideX PCR/CE HTT Kit will be presented and discussed.

Saturday, June 16, 12.15 - 13.45 hrs

CS06 – Blueprint Genetics, Saturday, June 16, 2018, 12.15–13.45 hrs, Brown 2 Stand # 426 SUNDAY Optimizing Genetic Testing to Maximize Diagnostic Yield and Value for the Patient 12.15–13.00 What should I know when selecting optimal testing for my patient? Tero-Pekka Alastalo, MD, PhD, Chief Medical Officer, President, Blueprint Genetics, San Francisco, US 13.00–13.45 Optimizing diagnostic yield in NGS-based genetic diagnostics Lucia Guidugli, PhD, Director of Molecular Diagnostics, Blueprint Genetics, San Francisco, US Due to the rapid growth of genetic knowledge and the increasing number of available testing options, choosing the optimal test for your patient

MONDAY may seem like a daunting task. Differences in NGS platforms, proprietary solutions, bioinformatics pipelines, and clinical interpretations can lead to significant variations in diagnostic yields. This session seeks to equip clinicians with the necessary knowledge to confidently select the optimal test for their patients. Key characteristics of high quality NGS-based genetic testing and a check list for choosing a patient’s ideal testing solution will be introduced. Patient examples which demonstrate how to optimize genetic diagnostics to result in maximized diagnostic yield will be examined as well. Drop by booth #426 or visit blueprintgenetics.com to learn more about the recent advances from Blueprint Genetics.

TUESDAY CS05 – Canon BioMedical, Saturday, June 16, 2018, 12.15–13.45 hrs, Brown 1 Stand # 346

Tough Targets, Simple Genotyping — Fast and Easy Protocols to Determine SMN1 and SMN2 Copy Number and APOE Allele Identification Determining the copy number of SMN1 and SMN2 genes is notoriously difficult due to the high level of homology between the two genes. These genes, that are associated with spinal muscular atrophy (SMA), only differ by a single nucleotide, which requires any copy number solution to have very high assay specificity. For researchers focused on Alzheimer’s disease, identifying their samples as APOE allele type E2, E3, or E4 is of the utmost importance. Testing samples for APOE status can build a cohort that separates the low-risk E2 allele from the high-risk E4 allele. SATELLITES The Novallele™ copy number and genotyping assays are designed to give researchers a simple method to investigate difficult-to-analyze genetic changes. The Novallele assays generate accurate data using a simple protocol that returns results in around an hour. We will discuss the protocol in more detail, including scientific principles, assay workflows, and data analysis. Attend our session to learn how Canon BioMedical can help you with your research.

The products mentioned are for Research Use Only. Not for use in diagnostic procedures. Nothing herein constitutes medical advice. AWARDS

CS08 – Congenica, Saturday, June 16, 2018, 12.15-13.45 hrs, Amber 2 Stand # 332

New Applications of Whole Genome Analysis in Rare Disease Diagnostics Hear from 3 key members of world-leading institutions on their applications of WGS & analysis for diagnosis of rare disease. Speakers will outline projects where whole genome analysis was applied in novel techniques for more comprehensive diagnoses, and the real-world applications of their project findings. EMPAG Talks will include: The UK PAGE Project: prenatal application of whole exomes and genomes. Ready for the clinic? Dom McMullan, FRCPath, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK Streamlining WES analysis and interpretation: implementing a sequencer into Sapientia software workflow Yogen Patel, PhD, Congenica, Cambridge, UK The NIHR BioResource experience: whole genome analysis of patients with rare bleeding and platelet disorders Karyn Megy, PhD, NIHR BioResource, University of Cambridge, Cambridge, UK INFORMATION

46 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME CORPORATE SATELLITES

CS07 – Eppendorf, Saturday, June 16, 2018, 12.15–13.45 hrs, Amber 1 Stand # 384 GENERAL X ways to improve the quality of your NGS library prep results Your speaker will be: Mr Marc-Manuel Hahn, Application Specialist at Eppendorf, Hamburg, Germany Next-generation sequencing sample preparation is a labor-intensive process, which requires experience, precision and accuracy to generate high-quality NGS libraries. The Eppendorf epMotion® can automate this pipetting-intensive protocol into a ready-to-run procedure with minimal user-interventions and setup time even for runs with low sample numbers. To minimize programming time and get you up and running quickly, Eppendorf provides pre-optimized and manufacturer-qualified NGS reagent kit methods that will result in reproducible preparation of high-quality NGS libraries. The sequencing results are comparable or better to those from manual preparation. Trust in the Eppendorf epMotion to automate your SATURDAY NGS library preparation and eliminate the risk of human pipetting errors, provide reproducible results and increase overall productivity.

Sunday, June 17, 11.15 - 12.45 hrs

CS10 – Agilent Technologies, Sunday, June 17, 2018, 11.15–12.45 hrs, Brown 1 Stand # 310 SUNDAY New Agilent Applications for Cancer and NIPD- overcoming challenges and expanding possibilities Robust cost-effective Monogenic, Non-invasive Prenatal Diagnosis by Targeted Haplotyping and targeted cfDNA sequencing Prof. Wouter de Laat, Hubrecht Institute for Development Biology and Stem Cell Research-KNAW and University Medical Center Utrecht, the Netherlands With monogenic heritable diseases, background maternal cfDNA prohibits direct observation of maternally-inherited alleles. We present how Monogenic Non-invasive prenatal diagnostics (MG-NIPD) is an affordable methodology for non-invasive diagnosis. Evaluation and comparison of BRCA MASTR Plus assay from Multiplicom for reliable detection of germline and somatic alterations

Dr. Julie Vendrell, Laboratoire de Biologie des Tumeurs Solides, Département Pathologie et Onco-biologie, CHU de Montpellier, France MONDAY To determine the best approach to implement in a clinical laboratory, we benchmarked BRCA MASTR Plus Dx with amplicon-based panels. Implementation and preliminary results evaluating the new MASTR assay BRCA4 for germline samples will also be presented. Hospital La Fe, a complete NGS solution in a clinical research environment Dr. Angel Zuñiga, Clinical Genetics, Hospital Universitari i Politècnic la Fe, Valencia, Spain We are developing a complete workflow using Agilent NGS solutions to investigate mutations involved in several human diseases investigations using SureSelect QXT and Bravo for sample preparation, and discuss NGS data interpretation using Alissa Interpret for data interpretation.

BRCA MASTR Plus Dx is For In Vitro Diagnostic Use. SureSelect QXT is For Research Use Only. Not for use in diagnostic procedures. TUESDAY

CS13 – Face2Gene, Sunday, June 17, 2018, 11.15–12.45 hrs, Amber 2 Stand # 338

Face2Gene: Linking the Phenotype & Gene Variants to Speed Discovery & Diagnosis Peter Krawitz, MD, Chief Data Science Officer, FDNA, Director, Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany SATELLITES Quantifying the impact next-generation phenotyping technologies have on interpreting next-generation sequencing and discovering the genetic cause of diseases where no molecular cause is known

CS12 – NIPD Genetics, Sunday, June 17, 2018, 11.15–12.45 hrs, Amber 1 Stand # 382

NIPT beyond aneuploidies

NIPD Genetics has developed a novel targeted non-invasive prenatal test (NIPT) that allows the non-invasive detection of numerous genetic AWARDS syndromes and single gene diseases by analyzing fetal DNA in maternal circulation with unparalleled accuracy. 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. This technology is currently marketed as the VERACITY new generation non-invasive prenatal test. VERAgene is our new comprehensive non-invasive prenatal test that can simultaneously detect aneuploidies, microdeletions and monogenic diseases. VERACITY and VERAgene consider the complexities of the human genome, and are designed to avoid problematic genomic regions that reduce test sensitivity and specificity. Both tests have demonstrated the ability to detect fetal aneuploidies, sub chromosomal deletions and point mutations

with unparalleled accuracy. EMPAG 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

ESHG 2018 | Milan, Italy | www.eshg.org 47 PROGRAMME CORPORATE SATELLITES

Sunday, June 17, 11.15 - 12.45 hrs

CS11 – QIAGEN, Sunday, June 17, 2018, 11.15–12.45 hrs, Brown 2 Stand # 244

Transforming your biological samples into actionable insights GENERAL 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. A panel of external and internal experts will report on their latest findings, and will be available for discussion during the workshop.

CS09 – Thermo Fisher Scientific, Sunday, June 17, 2018, 11.15–12.45 hrs, Amber 3+4 Stand # 350 SATURDAY Single genes to pan-genome variant detection: how do we improve efficiency? The wide spectrum of genetic and phenotypic heterogeneity in rare and inherited disease research means that a single technology platform is unlikely to deliver the appropriate clinical sensitivity, cost and time efficiency in all potential disease research areas. In this session, we describe the deployment of a variety of genetic analysis approaches to reduce time and cost burden in the study of monogenic to multifactorial disorders. Selecting the right tool for the job Steve Jackson PhD, Associate Director, Product Applications, Thermo Fisher Scientific, Carlsbad, USA SUNDAY An NGS gene panel approach to disease variant gene discovery in deafness and autism Speaker TBD An NGS gene panel approach using the new Ion Torrent GeneStudio Prime/Ion 550 chip and Ion AmpliSeq technology. How to overcome the challenges of exon-level CNV detection Tord Jonson, PhD, Clinical Molecular Geneticist, Labmedicin Skåne, Universitetssjukhuset, Lund, Sweden Detecting single-exon deletions and duplications for the complementation of NGS mutation analysis with the new Applied Biosystems™ CytoScan™ XON Suite.

MONDAY Detection of carrier status using a single pan-ethnic research assay Speaker TBD A new automated Carrier Screening research assay of 6,000 known inherited disease genomic variants for a fast preliminary search.

Sunday, June 17, 15.00 - 16.30 hrs

TUESDAY CS14 – AstraZeneca, Sunday, June 17, 2018, 15.00–16.30 hrs, Amber 3+4 Stand # 549

BRCA and Beyond: The Leading Role of the Testing Laboratory Chair: Prof. Nicoletta Colombo, Director of Department of Gynaecological Oncology, European Institute of Oncology, Milan, Italy Speakers: • Prof. Ettore Capoluongo, Prof. of Clinical Molecular Biology, Catholic University of Sacred Heart, Rome, Italy • Dr Véronique Haddad, Department of Biopathology, Molecular Biology Unit Director, Centre Léon Bérard (University Hospital), Lyon, France SATELLITES The rise of precision medicine has evoked dramatic advances in the use of diagnostic tests in the clinical setting. These advances have positioned the laboratory at the centre of the clinical decision-making process within the multi-disciplinary team. Join us in this 90-minute symposium aimed at laboratory specialists, to hear a panel of experts from across a multidisciplinary setting discussing: -- best practices to optimize your BRCA testing to ensure rapid, accurate diagnostic reporting in the assessment of solid tumours, such as ovarian, breast, and prostate. -- the evolving landscape, insight into the next generation of diagnostic assays that are used to analyse genes of DNA damage response. AWARDS -- how an oncologist assesses which diagnostic tests may be appropriate for an individual patient to advise optimal patient management. EMPAG INFORMATION

48 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME CORPORATE SATELLITES

Sunday, June 17, 15.00 - 16.30 hrs GENERAL

CS17 – Fabric Genomics, Sunday, June 17, 2018, 15.00–16.30 hrs, Amber 1 Stand # 364

Accurate and Rapid Genome Interpretation in Clinical Care Fabric Genomics’ interpretation and reporting platform, Fabric EnterpriseTM, for hereditary disease and oncology enables laboratories to develop standardized NGS testing programs with targeted gene panels, exomes, and whole genomes. We will discuss key interpretation and reporting

capabilities needed to launch and scale clinical NGS testing and present an optimal solution for triaging candidate variants, combining best in- SATURDAY class filtering and algorithmic ranking. This method is being used successfully for NICU testing at Rady Children’s Hospital, San Diego and for rare disease patients in the 100,000 Genomes Project, spearheaded by Genomics England. We will highlight a key example of genomic testing at Sheffield Diagnostic Genetics Service, where the use of Fabric Genomics’ technology for gene panel testing has enabled a faster turnaround time from annotation to clinical report. We will conclude by presenting data from over 2,000 clinical cases and published disease-association study replications demonstrating that VAAST and Phevor identify disease-causing genes in a range of scenarios, an improvement over traditional approaches and tools. Speakers:

• Vanisha Mistry, PhD, Field Application Scientist EMEA, Fabric Genomics, London, UK (Chair) SUNDAY • Matthew Parker, PhD, Lead Bioinformatician, Sheffield Diagnostic Genetics Service, Sheffield, UK • Francisco M. De La Vega, D.Sc., Senior Vice President of Genomics, Fabric Genomics, California, USA

CS16 – NanoString Technologies, Sunday, June 17, 2018, 15.00–16.30 hrs, Brown 2 Stand # 264

Digital Genomics: Multiplexed RNA Signatures and New Hyb & Seq Targeted Sequencing Technology MONDAY Speakers: • Rich Boykin, Sr. Director, Bioinformatics, NanoString Technologies, Seattle, WA, USA • Anna Piskorz, Sr. Research Associate, CRUK Cambridge Institute, University of Cambridge, UK In this presentation, we will discuss nanoString nCounter® platform applications and introduce new targeted NGS technology, Hyb & SeqTM system. Sarcoma and lung cancer are two focus areas for researchers working to understand molecular basis of disease using NanoString mRNA profiling technology. With its high specificity and reproducibility, the nanoString nCounter® platform is capable of measuring RNA and DNA counts from TUESDAY highly degraded samples from small input volumes for quantitation of features of interest. This session will explore how groups working to analyze both mRNA gene fusions and gene expression data have utilized the nCounter® platform for development of assays. Hyb & SeqTM Technology is a library-free, amplification-free, sequencing-by-hybridization technique that works directly on native DNA and RNA to rapidly yield highly accurate single-molecule consensus reads. This session will explore how Hyb & SeqTM technology enables simultaneous measurement of copy number alteration (CNA), differential gene expression and targeted mutations (SNV) from clinically relevant samples of High Grade Serous Ovarian Cancer. SATELLITES

CS18 – New England Biolabs, Sunday, June 17, 2018, 15.00–16.30 hrs, Amber 2 Stand # 454

Advancements in NGS Sample Preparation – From translational research into clinical applications New England Biolabs is a global leader in developing solutions for Next Generation Sequencing Sample Preparation and continues to push the forefront in providing high quality, robust products to support the clinical application of genomic data. During this workshop we will elucidate this through practical examples demonstrating how these products are being applied to overcome challenges associated with clinical genomics. AWARDS Dr. Luiza Moore, Wellcome Trust Sanger Institute, Cambridge, UK From frozen tissue blocks to precise whole genome analysis and phylogenetic tree reconstruction of individual stem cells Dr. Kim de Leeneer, Ghent University Hospital, Belgium The road to next generation molecular diagnostics employing Cancer-specific Gene-Panel-Sequencing Andrew Barry, NEB, Ipswich, USA An overview of the latest advancements from NEB to enable human genetics

Your host is: Dr. Bjoern Textor, NEB, Frankfurt, Germany EMPAG Don’t miss this opportunity and join us – no registration is required. Enter our on-site raffle & win one of five Solar Power Banks! We’ll also take care of your blood sugar as complimentary pastries plus hot & cold beverages will be served. Looking forward to seeing you! INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 49 PROGRAMME CORPORATE SATELLITES

Sunday, June 17, 15.00 - 16.30 hrs

CS15 – SOPHiA GENETICS, Sunday, June 17, 2018, 15.00–16.30 hrs, Brown 1 Stand # 528

SOPHiA GENETICS’ Solutions: the Gold Standard for Clinical Genomics GENERAL Clinical Exome (CES) and Hereditary Disorders (HDS) Solutions in NGS diagnostics: big gene panels to answer big questions Georgios Stamoulis, Ph.D., Clinical Application Product Manager, SOPHiA GENETICS, Lausanne, Switzerland Streamlined CNV analysis on targeted panels and exomes Irina Krier, Ph.D., Senior Bioinformatician, SOPHiA GENETICS, Lausanne, Switzerland Design and validation of a comprehensive NGS-based application for hereditary cancer screening Elena Marino, Molecular Biologist, Department of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Milan, Italy

SATURDAY Clinical Exome Solution (CES): Clinical utility in routine diagnostics for complex and unsolved case investigations Dr. Pantelis Constantoulakis, Head of the Molecular Genetics Department at Science Labs-Genotypos S.A., Athens, Greece About SOPHiA GENETICS Global leader in Data-Driven Medicine, SOPHiA GENETICS is a health tech company which has developed SOPHiA AI, the most advanced technology for clinical genomics, helping healthcare professionals better diagnose and treat patients. The global network of 427 hospitals in 60 countries that use the SOPHiA DDM analytical platform powered by SOPHiA form the world’s largest clinical genomics community. By enabling the rapid adoption of genomic testing, turning data into actionable clinical insights, and sharing knowledge through its community, SOPHiA GENETICS is democratizing SUNDAY Data-Driven Medicine to save lives.

Sunday, June 17, 19.15 - 20.45 hrs

CS23 – GE Healthcare, Sunday, June 17, 2018, 19.15–20.45 hrs, Amber 2 Stand # 262

MONDAY How to increase NGS success with optimal sample preparation Next-generation sequencing (NGS) has enabled us to extract genetic information from samples faster, more reliably, and cheaper than ever before, such that it has become routine. In addition to preparing your sequencing libraries, it is essential to consider your sample as well as any specific requirements from a platform perspective. Getting reliable data from NGS is as much about the DNA (or RNA) you put in, as it is the library prep, so what can you do to make sure your input DNA gives you the quality sequencing results you need? Speaker: • Mr Andrew Gane, Strategy and Technology Manager, Genomics & Diagnostics Solutions, GE Healthcare, Cardiff, UK TUESDAY

CS19 – Illumina, Sunday, June 17, 2018, 19.15–20.45 hrs, Amber 3+4 Stand # 540

Programme to be announced.

CS22 – Integrated DNA Technologies, Sunday, June 17, 2018, 19.15–20.45 hrs, Amber 1 Stand # 568 SATELLITES

Overcoming NGS and CRISPR detection challenges with advanced solutions The world leader in custom nucleic acid synthesis, Integrated DNA Technologies (IDT) offers a growing portfolio of genomics solutions for use in research and clinical applications. At this workshop, we will share our latest developments in next-generation sequencing and CRISPR genome editing. For NGS detection of low frequency variants, we’ll share molecular tagging adapter strategies that enable significantly improved accuracy for the

AWARDS detection of low, and ultra-low (<0.5 %) frequency variants, including a single unique molecular identifier (UMI) approach, and duplex sequencing. To achieve better variant detection with whole exome sequencing (WES), scientists from Blueprint Genetics will present their comparison of WES assays that enable uniform coverage and provide high sensitivity in variant detection. Their study qualifies utility of Illumina NovaSeq and IDT’s Exome with boosted content for clinical diagnostics of hereditary disorders. Gene editing with CRISPR/Cas9 is moving towards therapeutic applications, driving an increased need for in-depth characterization of on- and off-target events. We will present a multiplexed, amplicon-based NGS enrichment method (rhAmpSeq™) that enables high-level multiplexing for interrogation of putative Cas9 cleavage sites throughout a genome. This easy workflow for quantitative assessment includes advanced chemistry, EMPAG unique enzymes, intelligent primer design, and dedicated data analysis. Speakers: • David Kupec, Senior Product Manager at IDT, Redwood City, USA • Ashley Jacobi, Research Scientist at IDT, Coralville, USA • Pertteli Salmenperä, PhD, Molecular Technologies Director at Blueprint Genetics, Helsinki, Finland INFORMATION

50 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME CORPORATE SATELLITES

Monday, June 18, 11.15 - 12.45 hrs GENERAL

CS24 – Agilent Technologies, Monday, June 18, 2018, 11.15–12.45 hrs, Amber 3+4 Stand # 310

Inherited diseases - new solutions to old challenges Analysis of targeted gene panels and whole exome sequencing with streamlined data analysis in investigation of inherited disorders Prof. Marie Louise Bondeson, Department of Clinical Genetics, Uppsala University Hospital, Sweden

We evaluated the SureSelect Custom Constitutional Panel 17Mb (CPP17) and SureSelect Human All Exon 7. NGS data from in-house bioinformatics SATURDAY pipeline was compared with Agilent Alissa Align & Call software platform. Filtration and variant interpretation was performed using Alissa Interpret and our routine work-flow. Identification of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing Dr. Julia Baptista, Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK For couples with multiple affected pregnancies, fetal samples are limited in quality and quantity. Our novel testing strategy allows identification of autosomal recessive disorders in these couples. We present our results for 50 consecutive couples, and discuss the utility and success of our approach.

Detecting CNVs by Array-CGH SUNDAY Dr. Joana Barbosa de Melo, Cytogenetics and Genomics Lab, Faculdade de Medecina de Coimbra, Portugal In addition to postnatal and prenatal research, we use CGH array for detection of Copy Number alterations in Head and Neck Cancers. We discuss some paradigmatic cases, showing the utility of this tool.

For regulatory status of various Agilent products, please refer to www.agilent.com.

CS25 – CENTOGENE, Monday, June 18, 2018, 11.15–12.45 hrs, Brown 1 Stand # 362 MONDAY

Clinical genomics and genetic risk prediction Clinical Whole Genome Sequencing: value beyond exon-intron boundaries Aida Bertoli-Avella, CENTOGENE AG, Rostock, Germany CentoScreen: a comprehensive test targeting recessive carrier risks Prof. Peter Bauer, CENTOGENE AG, Rostock, Germany TUESDAY

CS26 – Roche Sequencing Solutions, Monday, June 18, 2018, 11.15–12.45 hrs, Brown 2 Stand # 230

Cell-free DNA in prenatal testing and liquid biopsy Chair: Maximilian Schmid, MD, Senior Director Medical Affairs - Roche Sequencing Solutions, Inc., San Jose, USA

Cell-free DNA testing for fetal aneuploidy – accuracy and reliability SATELLITES Francesca Romana Grati, PhD, ErCLG, R&D Director, TOMA Advanced Biomedical Assays, S.p.A., Busto Arsizio, Italy Fetal Fraction – an important clinical and laboratory quality metric Elaine Holgado, PhD, Consultant Clinical Scientist in Molecular Genetics, The Doctors Laboratory, London, UK Liquid biopsy- Implementation of NGS based diagnostics workflows in a clinical setting Tomasz Zemojtel, PhD, Head of Genomics Platform, Berlin Institute of Health, Berlin, Germany Circulating cell-free DNA (cfDNA) has revolutionized genomic medicine and diagnostics. The rapid adoption of non-invasive prenatal testing (NIPT) prompted significant investment into liquid biopsy, a technology which promises to bring novel solutions to cancer detection and monitoring AWARDS using cell-free tumor DNA (ctDNA). The session will focus on the varying approaches to cfDNA testing and highlight technical as well as biological limitations that need to be taken into account in the laboratory implementation of NIPT. It will cover the implementation of ctDNA testing, a clinical research tool with the sensitivity and specificity needed to detect low levels of ctDNA in the plasma. Its potential utility for the prediction of treatment response, the detection of resistance mutations, and as emerging tool for disease surveillance and monitoring for solid tumors will be discussed. EMPAG INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 51 PROGRAMME CORPORATE SATELLITES

Monday, June 18, 11.15 - 12.45 hrs

CS27 – SISTEMAS GENÓMICOS, Monday, June 18, 2018, 11.15–12.45 hrs, Amber 1 Stand # 578

Bioinformatics and transcriptomics in genetic diagnosis GENERAL Chair: Javier Benitez, PhD, Head Human Cancer Genetics Programme, Spanish National Cancer Research Center (CNIO), Madrid, Spain The new technologies based on genomics and bioinformatics are being incorporated in clinical genetics not only for research but also for diagnosis, closing the gap between the identification of point mutations and large genetic rearrangements. Bioinformatics developments now permit the detection of alterations in new genes as these occur in inherited cardiac diseases. The same happens between DNA and RNA analysis in complex genes thanks to the RNAseq (transcriptomic) that facilitates the study and characterization of alterations at RNA level. Finally, the use of low coverage sequencing permits the detection of new fetal alterations since the first days of pregnancy.

SATURDAY Reassessing the impact of Copy Number Variants in inherited cardiac conditions Christian M. Moya, PhD, Head of Diagnostics and Molecular Biology, Sistemas Genómicos, Valencia, Spain Transcriptome analyses facilitate the identification of genetic alterations in complex genes Juan Carlos Triviño, Head of Bioinformatics Department, Sistemas Genómicos, Valencia, Spain Low coverage sequencing for the identification of gross alterations in prenatal and preimplantation diagnosis Alejandra Pérez, PhD, Product Specialist of Reproductive Genetics Unit, Sistemas Genómicos, Valencia, Spain SUNDAY

CS28 – Thermo Fisher Scientific, Monday, June 18, 2018, 11.15–12.45 hrs, Amber 2 Stand # 350

Answers are closer than you think: new 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. We will present new solutions for maximising genomic analysis through recovery of DNA and RNA from the difficult samples as well as genetic testing of tumour-derived cell-free DNA and total nucleic acids with a high-throughput processing platform.

MONDAY Hear about how the new award winning Invitrogen™ LentiArray CRISPR Libraries expand the application of CRISPR-Cas9 technology into high throughput applications for functional genomics screening. Discovery: automated high throughput purification solution for DNA and RNA samples for demanding downstream applications Speaker TBD Understanding: CRISPR deployed. Target identified: advance your functional genomics research with award-winning solutions Speaker TBD

TUESDAY Answers: we will have 2 presentations that show you how the use of these technologies can provide you with the answers to your genetic research hypotheses and how they have brought clarity quicker than originally thought possible.

Monday, June 18, 15.00 - 16.30 hrs

CS30 – 10x Genomics, Monday, June 18, 2017, 15.00–16.30 hrs, Brown 1 Stand # 436

SATELLITES Biology at True Resolution: What Have You Been Missing? 10x Genomics is building tools for scientific discovery that reveal and address the true complexities of biology and disease. Through a combination of novel microfluidics, chemistry and bioinformatics, our award-winning Chromium System is enabling researchers around the world to more fully understand the fundamentals of biology at unprecedented resolution and scale. Join us as we take a look at the evolution of our technology, provide an update on our newest products including Single Cell ATAC-seq and Single Cell CNV, and hear examples of customer success stories. AWARDS Refreshments will be available after the event. Welcome & Introductions Scott Brouilette, Regional Marketing Manager EMEA, 10x Genomics Biology at True Resolution: What Have You Been Missing? Annika Branting, Marketing Development Manager EMEA, 10x Genomics Pushing the Limits of Linked Reads EMPAG Pekka Ellonen, Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Finland INFORMATION

52 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME CORPORATE SATELLITES

Monday, June 18, 15.00 - 16.30 hrs GENERAL

CS33 – Blueprint Genetics, Monday June 18, 2018, 15.00–16.30 hrs, Amber 2 Stand # 426

Next Generation Interpretation Technology – Utilization of Artificial Intelligence to Interpret Patient’s Genetic Test Results 15.00–15.45 Tackling the growing challenges of clinical interpretation of NGS data Eveliina Salminen, MD, PhD, Clinical Interpretation Team Leader, Blueprint Genetics, Helsinki, Finland 15.45–16.30 Automated interpretation unlocks genomic medicine SATURDAY Jussi Paananen, PhD, Director of Data Science, Blueprint Genetics, Helsinki, Finland This session will provide the audience with a comprehensive overview of the current clinical interpretation process and changes that will occur due to recent technological advances. A focus will be placed on next generation interpretation technology such as utilization of AI to interpret a patient’s genetic test results. Strategies which maximize quality and reproducibility of clinical interpretation in a high volume rare disease genetic diagnostic laboratory will be introduced as well. Drop by booth #426 or visit blueprintgenetics.com to learn more about the recent advances from Blueprint Genetics. SUNDAY

CS32 – FLUIDIGM, Monday, June 18, 2018, 15.00–16.30 hrs, Amber 1 Stand # 544

Power a New Future in Molecular Genomics Achieve real savings with automated workflows and nanoscale reactions. The Juno™ Targeted DNA Sequencing Library Preparation System allows you to easily scale next-generation sequencing (NGS) sample throughput. Providing operational efficiency for detecting known or de novo DNA variants, the system is ideal for routine testing or large-scale screening MONDAY projects. Microfluidics automate amplicon enrichment and sample barcoding, enabling you to accurately sequence more samples in a cost-effective manner. Biomark™ HD is an automated, high-performance PCR system that processes tens to hundreds of samples in parallel at nanoliter volumes for gene expression, genotyping, CNV analysis and digital PCR. Ideal for performing PCR on multiple markers across hundreds to thousands of samples, the Biomark HD provides significant cost and time advantages over plate-based technologies. Shaun Cordes, Director of Product Management, Genomic Systems, Fluidigm, San Francisco, CA, USA Introduction to Fluidigm Microfluidic Technology TUESDAY David Zeevi, PhD, Director of Research and Development, Dor Yeshorim, Committee for the Prevention of Jewish Diseases, Jerusalem, Israel Population screening for autosomal recessive pathogenic variants using the Fluidigm EP1™ System Bill Hunt, Marketing Director, Applications Product Management, Fluidigm, San Francisco, CA, USA Improve workflow efficiency with Advanta™ NGS library prep assays for inherited genomics and oncology using the Juno™ system SATELLITES CS31 – Twist Bioscience, Monday, June 18, 2018, 15.00–16.30 hrs, Brown 2 Stand # 266

Your Exome, Your Custom Content, Your Workflow Don’t Settle for Less in Targeted Sequencing Twist Bioscience is transforming synthetic biology and genomics. Although targeted sequencing has evolved, today’s methods are too limiting and inflexible for scientists to use them as desired. Twist Bioscience is entering the targeted sequencing market with a novel Target Enrichment Solution that breaks out of these limitations. The scalable solution combines quick customization and content flexibility with unprecedented sequencing efficiency. Double-stranded DNA probes are individually tuned to enrich target regions with great uniformity, reducing the overall cost AWARDS of sequencing. Twist Bioscience’s fast and precise DNA Synthesis Platform further allows testing of custom panels before locking in the final design. During this workshop, invited speakers present data from their work using Twist panels ranging from the exome to focused sets of genes and viruses. EMPAG INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 53 PROGRAMME BUSINESS AND ANCILLARY MEETINGS

As per date of printing. Friday, June 15, 2018 08.00 – 13.00 hrs UEMS Exams (written) White 2 closed 08.00 – 18.00 hrs ERN GENTURIS White 1 closed

GENERAL 09.00 – 13.00 hrs ESHG Executive Board Meeting Yellow 3 closed 09.00 – 18.00 hrs EBMG GNGC Board Meeting Suite 2 closed 13.00 – 18.00 hrs UEMS Exams (oral) Suite 7, 8, 9 / Office 18, 19 closed 13.30 – 18.00 hrs ESHG Board Meeting I Yellow 3 closed Saturday, June 16, 2018 09.00 – 13.30 hrs ESHG PPPC Meeting Suite 1 closed 09.00 – 13.30 hrs ESHG Quality Subcommittee Meeting Suite 2 closed SATURDAY 09.00 – 14.00 hrs ERN GENTURIS White 1 closed 10.00 – 18.30 hrs EBMG Exams Yellow 3 closed 12.15 – 13.45 hrs ESHG NPG/Exec Suite 3 closed 13.00 – 14.30 hrs HVP ISAC White 2 closed 13.00 – 14.00 hrs ERN Trainee meeting Yellow 1+2 closed 14.30 – 16.30 hrs E.C.A. Meeting White 1 closed SUNDAY Sunday, June 17, 2018 08.15 – 10.45 hrs European Network of Genetic Nurses and Counsellors Meeting Yellow 3 open to members 10.00 – 13.30 hrs Genetics of Auto-Inflammatory Disorders White 1 closed 10.15 – 11.15 hrs ERN-ITHACA Board Meeting Suite 1 closed 11.00 – 12.30 hrs EBMG Clinical Laboratory Geneticists (CLG) Meeting Suite 2 open to members 11.00 – 13.00 hrs National Human Genetics Societies Meeting Yellow 3 closed 11.30 – 13.00 hrs GENIDA advisory boarding meeting Suite 1 closed MONDAY 13.00 – 17.00 hrs EBMG Exams Suite 3 closed 13.30 – 15.30 hrs CEQAS Participants Meeting Yellow 3 open 16.30 – 17.30 hrs ERN-ITHACA Solve-RD Phenotyping Yellow3 ...... closed 16.30 – 18.00 hrs Building Bridges ESHG/ASHG Meeting White 2 closed 19.30 – 20.30 hrs ESHG Membership Meeting Yellow 1+2 open to members Monday, June 18, 2018

TUESDAY 08.00 – 10.00 hrs UEMS and EBMG BMGG Boards Meetings White 1 closed 08.30 – 10.30 hrs ESHG Education Committee Meeting White 2 closed 10.00 – 11.00 hrs EJHG Editorial Board Meeting Suite 2 closed 10.00 – 12.30 hrs UEMS Section Meeting White 1 open at 11.30 hrs 10.15 – 11.15 hrs ESHG/ASHG Leadership Meeting White 2 closed 11.00 – 13.30 hrs Journal of Community Genetics Suite 1 closed 11.30 – 14.00 hrs BAP1 Interest Group(BIG) Consortium Meeting Suite 3 closed 11.45 – 12.45 hrs ESHG Board Meeting II Yellow 3 closed

SATELLITES 12.00 – 13.00 hrs EJMG Board Meeting Suite 2 closed 13.00 – 15.00 hrs EBMG General Assembly Yellow 3 closed 16.00 – 17.45 hrs LOVD user networking meeting Yellow 3 closed Tuesday, June 19, 2018 09.00 – 13.30 hrs COST Action CA16118: Reverse phenotyping in Genetics of Brain Malformations Yellow 3 open 12.15 – 13.15 hrs ESHG SPC Meeting White 1 closed AWARDS 12.30 – 13.30 hrs EMPAG SPC Meeting Suite 1 closed

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. EMPAG INFORMATION

54 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME ESHG AWARD & MENDEL LECTURES

ESHG Award GENERAL 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 on Tuesday, June 19, 2018 at 14.15 hrs in Gold Room. Award Holders SATURDAY 2018 Matthew Hurles 2009 Kari Stefansson 2000 Dirk Bootsma 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

2011 GertJan B. van Ommen 2002 Albert de la Chapelle 1993 Pierre Maroteaux SUNDAY 2010 Sir Alec Jeffreys 2001 Robin Winter 1992 Lore Zech

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 on Tuesday, June 19, 2018 at 13.30 hrs in Gold Room. Mendel Lecturers

2018 Emanuelle Charpentler 2013 Huda Zoghbi 2008 Leroy Hood TUESDAY 2017 George Church 2012 Evan Eichler 2007 Aaron J. Ciechanover 2016 Sir Adrian Bird 2011 Elizabeth H. Blackburn 2006 Sydney Brenner 2015 Thomas Südhof 2010 Mary Claire King 2014 Mario Capecchi 2009 Sir John Burn SATELLITES

The Mendel Award was designed by Swedish geneticist Alicia Bergsten. AWARDS EMPAG INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 55 PROGRAMME ESHG AWARD LECTURER INTERVIEW

Matthew Hurles

Matthew Hurles is Head of Human Genetics at the Wellcome GENERAL Sanger Institute, Hinxton, Cambridge, UK. He will be giving the ESHG Award Lecture on Tuesday June 19 at 14.15 hrs. He talked to Mary Rice about his life and work. When Matthew Hurles isn’t in his lab trying to identify rare genetic diseases, he may sometimes be found cycling up a mountain. He’s clearly someone who likes a challenge.

SATURDAY His interest in science started in his mid-teenage years. The books of Stephen Jay Gould sparked an interest in evolution and started him thinking about the role of science in deciphering it. Encouraged by his mother, a biochemistry teacher, he studied biochemistry at Oxford. “The course was general and the genetics component very slight, but for me that was the most interesting part. So for longer projects, both as a undergraduate and for my PHD, I sought out Matthew Hurles Head of Human Genetics at the Wellcome Sanger

SUNDAY things that were in that evolutionary space.” Institute, Hinxton, Cambridge, UK His interest in the genetics of evolution led naturally to his current work in the understanding of human genetic variation, its clinical If he hadn’t been become a scientist, there was a time when Hurles impact, and how the understanding of the genetic causes of rare would have liiked to play cricket professionally. “But I realise now disorders and their biological mechanisms can provide insights that it probably wouldn’t have been a wise choice, even had I been into human development. good enough.” Now he likes the idea of designing gardens even though, he says : “It sound very middle-aged !” As this suggests, For the last seven years he has led the UK’s Deciphering retirement is a long way off, and he will decide what he wants to MONDAY Developmental Disorders Project, which aims to use the latest do at a later stage. “There are two types of retirement amongst genomic technologies to diagnose chidren where a genetic scientists. Some retire and continue essentially as before, and some disorder is suspected, but where the tests available to the National you never see again. I don’t yet know which category I will fit into.” Health Service have not so far been able to arrive at a diagnosis. “Over the last seven years we’ve been able to work with about Gardening and cycling remains big interests, so he will have plenty 13,000 families and provide to the clinical teams that care for them to do if he decides to quit science for good in twenty years or so. what we think are likely diagnoses that they can work up and “Every few years friends and I go to the Alps and cycle up some of the classic climbs from the Tour de France. It’s very beautiful and

TUESDAY confirm”, he says. quite different from the landscape around Cambridge ! And every This work is clearly rewarding, but Hurles has a few qualms too. gardener will tell you that if they spent more time in the garden it “I would have liked to see our work enter routine clinical service would look better than it does currently.” more quickly than it has, but when you are engaging with an entire healthcare system it seems that delays are inevitable. And Hurles will be telling the conference about what he and the Genomics England programme is now taking up the baton of colleagues have learned during their time with the Deciphering transforming the system through the better use of genomic data. Developmental Disorders Project. “We’ve acquired a lot of new However, the work that we’re doing has made me more aware of knowledge about the genetic architecture of these children, who SATELLITES the ways in which, as a society, the support that we give families have disorders that are essentially genetic and that cause their who look after disabled children is woefully short of what they severe developmental problems. We’ve been able to generate should receive. I find that kind of societal unfairness to be deeply different types of genetic data and interrogate it and thereby frustrating.” identify the relative contributions of dfferent classes of variations, as well as defining many new genetic disorders that can now be “But on the other side of the coin, I’m very happy to have been diagnosed around the world. This has required bringing together able to find a place within science, which is something that a clinical engagement with the latest technologies and the

AWARDS fascinates me at an intellectual level, where there is also a real computational approaches required to marry all the data together. demonstrable benefit to people – especially to vulnerable people It’s something that we are proud of, and I am personally happy to in our community, people with rare genetic disorders. It’s a real have been able to use the science that I find so fascinating in a way privilege to be able to follow your own interests and do things that that can assist people who are really in need of help.” you’re curious about but that also have outputs that are extremely meaningful for people on a personal level.” EMPAG INFORMATION

56 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME MENDEL LECTURER INTERVIEW GENERAL

Emanuelle Charpentier

Emmanuelle Charpentier is Director of the Department of Regulation in Infection Biology at the Max Planck Institute for Infection Biology in Berlin, Germany. She will be giving the Mendel Lecture on Tuesday June 19 at 13.30 hrs. She talked to SATURDAY Mary Rice about her life and work. Although she was very interested in the natural and human sciences while at school, Emmanuelle Charpentier didn’t consciously think at that time that she might become a microbiologist one day – or so she believed. Yet, when she mentioned her plans to join the Institut Pasteur for her Masters, her mother told her that, aged 12, she had come home from school and said that she would work at the Pasteur one day. “I have no recollection of having said that; but SUNDAY my biology teacher must have talked about something that made me think of the possibility of becoming a microbiologist in the Emanuelle Charpentier future,” she says. Director of the Department of Regulation in Infection Biology at the Max Planck Institute for Infection Biology in Berlin, Germany The support of her parents has always been important to her, and particularly so when she left France to pursue her career as a If Charpentier hadn’t be a scientist, she might have been a ballet postdoc in the United States. “Being far away from your home in dancer or a performer in the arts. “I imagined doing this when I was a completely different work culture is not always easy, but I could a child.” She would also have enjoyed being an athlete, and still tries MONDAY always talk to them and they helped me expand my mindset. That to find time for sports. “It’s a way for me to achieve equilibrium after was a valuable experience and I believe that it also made me a long hours at work. I try to spend time on the track or swimming better scientist.” whenever I can, but with my busy schedule, I no longer have the After five years in the States, she returned to Europe and worked time for the cultural and artistic life that I used to enjoy.” in Austria, Sweden and Germany, where she has been at the Max Retirement is still a long way off, and “once a scientist, always a Planck Institute in Berlin since 2015. The discovery of CRISPR-Cas9 scientist,” she says. But she does sometimes think about projects TUESDAY gene editing technology thrust her into the spotlight. “It is truly outside the lab. “The impact of the CRISPR-Cas9 technology has an experience that has shaped my life as a scientist in a way that meant that I have had the privilege of meeting many people I could never have imagined, and I feel very honoured that it has who have initiated innovative and exciting projects that have the had such an impact on the scientific community. Although there aim of supporting scientists in their work, engaging society, and were already many tools for gene surgery, CRISPR-Cas9 has proved increasing the visibility of research among the public. I find that to be more precise, easier to use, more efficient and more versatile.” very inspiring.”

Whereas most technologies take some time to be adopted widely, In her talk, Emmanuelle Charpentier intends to share the history SATELLITES “thousands of labs around the world are already working hard to surrounding the discovery of the CRISPR-Cas9 gene editing further develop the technology,” says Charpentier. “I am thrilled technology with her geneticist colleagues. “As a microbiologist, about the prospect that one day, the CRISPR discovery may be used I have always been interested in the fundamental mechanisms to treat serious genetic diseases in humans. CRISPR Therapeutics, of infection and immunity in bacteria, and this is how I identified the company I co-founded with Rodger Novak and Shaun Foy, the CRISPR-Cas9 mechanism. Its versatility and simplicity has an has recently filed its first application for clinical trials for a CRISPR- immense potential for the treatment of serious genetic disease, based gene therapy against genetic blood disorders, such as but it also comes with challenges and responsibilities for scientists,

ß-thalassemia and sickle cell disease.” particularly when it comes to editing the human germline, the AWARDS Charpentier still has plenty of challenges to face, both in her subject of huge debate throughout Europe and more widely. I am work and more widely. “Advocating for basic science, and for already looking forward to the discussions!” microbiology in particular, is not easy. Understanding the basic workings of nature is definitely something that drives me as a scientist in my research, and I’m sure that goes for many colleagues too. But unfortunately, we all have to fight for funding for basic science. The discovery of the CRISPR-Cas9 technology shows EMPAG clearly that pure basic science can lead to a major breakthrough with practical applications. There are no old or obsolete topics ; one can make interesting findings in many research fields.” INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 57 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

ESHG Young Investigator Awards

The Scientific Programme Committee has shortlisted presenters for theESHG Young Investigator Awards. The committee will judge the finalists’ presentations during the conference. The following awards will be presented to the winners in the closing ceremony on Tuesday, June 19, 2018 at 15.00 hrs:

GENERAL • A total of four ESHG Young Investigator Awards are granted for outstanding research by young scientists presented as a spoken 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.

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

SUNDAY Talks of YIA finalists are highlighted by a grey background in the detailed scientific programme on the previous pages. We conducted a short interview with each candidate. These interviews can be found on our website. https://2018.eshg.org/index.php/abstracts/speaker/

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 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 TUESDAY submission after peer review. Candidate posters can be identified by a rosette on the board. The profiles as well as a short interview of the finalists can be found on the website. https://2018.eshg.org/index.php/abstracts/speaker/

EMPAG Young Investigator Award SATELLITES

9 EMPAG presenters were norminated for an EMPAG Young Investigator Award. The candidates are marked in the EMPAG Programme (page 66 ff). The EMPAG YIA will also be presented in the ESHG closing session together with all other awards. AWARDS EMPAG INFORMATION

58 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Saturday, June 16 at 16.30 hrs GENERAL

C01.3 C01.4 C02.2 C03.2 John McDermott Alina Kurolap Oluwakemi Lokulo-Sodipe Sebastiaan Vanuytven Manchester, United Kingdom Haifa, Israel Southampton, United Kingdom Leuven, Belgium SATURDAY

C03.3 C03.4 C03.5 C04.3 Marc Bonder Xiaojing Chu Daria Zhernakova Dylan de Vries Hinxton, United Kingdom Groningen, Netherlands Groningen, Netherlands Groningen, Netherlands SUNDAY

C04.4 C05.2 C05.4 C06.2 Jiayi Pei Katherine Johnson Marija Dulovic Mahmoud Fassad Utrecht, Netherlands Newcastle upon Tyne, United Kingdom Luebeck, Germany London, United Kingdom MONDAY

C06.3 C06.4 C06.5 Elisa Molinari Michiel Voskuil Alina Hilger Newcastle upon Tyne, United Kingdom Groningen, Netherlands Bonn, Germany TUESDAY Saturday, June 16 at 18.30 hrs SATELLITES PL2.2 PL2.3 Molly Gasperini Shruti Singla Seattle, WA, USA Cambridge, United Kingdom

Sunday, June 17 at 13.00 hrs AWARDS

C07.3 C07.4 C08.2 C08.3 Laurent Francioli Courtney French Andrea Ganna John Morris Boston, MA, USA Cambridge, United Kingdom Cambrdige, MA, USA Montreal, QC, Canada EMPAG

C09.2 C09.4 C11.3 C11.4 Lot Snijders Blok Víctor Faundes Sarah Stenton Paramasivam Arumugam Nijmegen, Netherlands Manchester, United Kingdom München, Germany Hyderabad, India INFORMATION

C11.5 Silvia Vidali Munich, Germany

ESHG 2018 | Milan, Italy | www.eshg.org 59 PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATES

Monday, June 18 at 13.00 hrs

C13.3 C13.5 C14.3 C14.4 GENERAL Mario Reiman Antoni Riera-Escamilla Vasilina Sergeeva Gregory Findlay Tartu, Estonia Barcelona, Spain Moscow, Russian Federation Seattle, WA, USA

SATURDAY C15.2 C16.2 C16.3 C16.4 Ilaria Parenti Julie Feusier Raul Aguirre-Gamboa Umberto Esposito Lübeck, Germany Salt Lake City, UT, USA Groningen, Netherlands Sheffield, United Kingdom SUNDAY C16.5 C17.2 C17.3 C17.4 Gudny Arnadottir Laura Vandervore Xenia Latypova Francesca Mattioli Reykjavik, Iceland Brussels, Belgium Nantes, France Illkirch, France MONDAY C18.5 Melodie Aubart Paris, France

Tuesday, June 19 at 11.00 hrs TUESDAY

C19.3 C20.2 C20.3 C20.4 Kristina Ibanez Susann Diegmann Sara Reynhout Elisa Giorgio London, United Kingdom Göttingen, Germany Leuven, Belgium Torino, Italy SATELLITES

C20.5 C21.2 C21.3 C21.4 Susanna Croci Eleonora Porcu Ronald de Vlaming Richard Oppong Siena, Italy Lausanne, Switzerland Rotterdam, Netherlands Edinburgh, United Kingdom AWARDS

C23.2 C23.3 Anna Morgan Raquel Silva Trieste, Italy London, United Kingdom EMPAG INFORMATION

60 ESHG 2018 | Milan, Italy | www.eshg.org PROGRAMME POSTER AWARD FINALISTS GENERAL

P02.15B P09.022B P14.096D P18.25A Fabiola Ceroni Ana Marques Patrick Deelen Mauro Pala Oxford, United Kingdom Lisboa, Portugal Groningen, Netherlands Cagliari, Italy SATURDAY

P02.31B P09.061A P14.097A P18.48D Sabrina Méchaussier Henrike Heyne Sophie Nambot Timo Tõnis Sikka Paris, France Boston, United States Dijon, France Tartu, Estonia SUNDAY

P04.07C P09.116D P15.03C P18.77A Lara Hochfeld Alessandra Zanon Dina Yagel Elena Loizidou Bonn, Germany Bolzano, Italy Ramat Gan, Israel London, United Kingdom MONDAY

P05.61A P10.04D P16.33A P19.24D Olga Giannakopoulou Natalia Mendoza Ferreira Alexander Kurilshikov Luzia Garrido

London, United Kingdom Cologne, Germany Groningen, Netherlands Porto, Portugal TUESDAY

P06.36D P12.076D P16.40D P20.05A

Charlotte Alston Elke van Veen Tzung-Chien Hsieh Mahsa Shabani SATELLITES Newcastle upon Tyne, United Kingdom Manchester, United Kingdom Bonn, Germany Leuven, Belgium

P06.50B P12.099C P17.22B P20.13A

Elisa De Franco Vincent Gatinois Alice Cortesi Liis Leitsalu AWARDS Exeter, United Kingdom Montpellier cedex 5, France Milan, Italy Tartu, Estonia

P06.64D P12.214B P17.45A

Noelia Benetó Kris Vleminckx Laura Fontana EMPAG Barcelona, Spain Ghent, Belgium Milan, Italy INFORMATION P09.014B P14.040D P17.58B Marc Corral-Juan David Zhang Christina Paliou Badalona, Spain London, United Kingdom Berlin, Germany

ESHG 2018 | Milan, Italy | www.eshg.org 61 62 ESHG 2018 | Milan, Italy | www.eshg.org EMPAG SCIENTIFIC PROGRAMME

ESHG 2018 | Milan, Italy | www.eshg.org 63 EMPAG PROGRAMME SATURDAY, JUNE 16

12.00 – 14.00 hrs | Lunch Break, Exhibition, Poster Viewing

12.30 – 13.30 hrs Amber 7+8 Brief Plenary Session – EBPL1: Hopes and expectations on genome editing

GENERAL Chairs: Annelien L. Bredenoord Sam Riedijk

EBPL1.1 The ethics of clinical applications of germline genome modification: a systematic review of reasons YIA Ivy van Dijke, VU Univ Medical Ctr, Amsterdam, Netherlands

EBPL1.2 SATURDAY Enabling informed opinions about germline editing among the general public: a pilot study Boy Vijlbrief, Erasmus Medical Ctr, Rotterdam, Netherlands

EBPL1.3 Informed consent in a human germline gene editing study - ethical issues Emilia Niemiec, Uppsala Univ, Uppsala, Sweden

EBPL1.4

SUNDAY The PRISM-IMPACT study: What are the hopes and expectations of families and health care professionals enrolling in a personalised YIA medicine trial for high risk childhood cancers? Janine Vetsch, Sch of Women’s and Children’s Health, UNSW Sydney, Sydney, NSW, Australia

14.00 – 14.30 hrs Gold Room Opening – Welcoming Addresses (joint with ESHG) Welcoming Addresses by MONDAY Christine Patch Maurizio Genuardi Elisabetta Razzaboni President of the ESHG President of the Italian Society of Human Genetics Sam Riedijk Co-Chairs of the EMPAG SPC

14.30 – 16.00 hrs Amber 7+8 Plenary Session – EPL1: Ensuring good clinical practice in whole genome sequencing

TUESDAY Chairs: Nadeem Qureshi Ramona Moldovan

EPL1.1 Knowledge about and attitudes towards whole-genome sequencing among participants in the 100,000 Genomes Project: a multi-site survey Saskia C. Sanderson, Great Ormond Street Hosp, London, United Kingdom

EPL1.2 A clinician survey: diagnostic utility, impact on patient management, and outcomes of clinical exome sequencing SATELLITES Jane Juusola, GeneDx, Gaithersburg, MD, USA

EPL1.3 Motivations and Barriers for participants and decliners of the 100,000 Genomes Project from different ethnic backgrounds Nilotpal Chauhan, Oxford Univ Hosp NHS Fndn Trust, Oxford, United Kingdom

EPL1.4 Patient perspectives after genomic sequencing testing in clinical care AWARDS Melissa Martyn, Melbourne Genomics Health Alliance, Parkville, VIC, Australia

EPL1.5 Reproductive and heteronormative presumptions in disclosure of pediatric whole exome sequencing results Allison Werner-Lin, Univ of Pennsylvania, Philadelphia, PA, USA

EPL1.6 Facilitating understanding of whole genome sequencing in young people

EMPAG Celine Lewis, North East Thames Regional Genetics Service, Great Ormond Street Hosp for Children NHS Fndn Trust, London, United Kingdom

16.00 – 16.30 hrs | Fruit Break, Exhibition, Poster Viewing INFORMATION

64 ESHG 2018 | Milan, Italy | www.eshg.org EMPAG PROGRAMME SATURDAY, JUNE 16

16.30 – 18.00 hrs Amber 7+8 GENERAL Plenary Session – EPL2: Improving communication in genetic counselling

Chairs: Elisabetta Razzaboni Milena Paneque Herrera

EPL2.1 ‘Music of Life’ a new metaphor for genomics, delivered as film within genetic counselling

Anna Middleton, Connecting Science, Wellcome Genome Campus, Cambridge, United Kingdom SATURDAY

EPL2.2 A large outcome study on genetic counseling in the Netherlands: empowerment and emotional functioning YIA Jan S. Voorwinden, UMCG, Groningen, Netherlands

EPL2.3 Improving communication for individuals with a rare condition Ashleen L. Crowe, Ctr for Public Health, Queen’s Univ Belfast c/o Regional Genetics Ctr, Level A, Tower Block, Belfast City Hosp, Lisburn Road, BT9 7AB, Belfast, United Kingdom

EPL2.4 SUNDAY Empowering service users: Assessing the potential benefits of psychiatric genetic counselling from the 1st UK pilot study. Melanie S. Watson, Wessex Clinical Genetics Service, Southampton, United Kingdom

EPL2.5 Bridging the gaps of uncertainty in genetic counselling with ethnic-specific data. Yasmin M. Bylstra, Singhealth Duke-NUS Inst of Precision Med, Singapore, Singapore

EPL2.6 MONDAY myKinMatters: developing a web app tool to help patients create a family tree and communicate genetic health information to at-risk relatives Lisa M. Ballard, Clinical Ethics and Law, Univ of Southampton, Southampton, United Kingdom

18.00 – 18.30 hrs | Coffee Break, Exhibition, Poster Viewing

18.30 – 20.00 hrs Amber 7+8

Plenary Session – EPL3: Educating Professionals and Public TUESDAY

Chairs: Christophe Cordier Ramona Moldovan

EPL3.1 ‘What is genomics as I’ve never heard of it?’: The challenges of identifying the education needs around an emerging clinical area Michelle Bishop, Genomics Education Programme, Edgbaston, United Kingdom SATELLITES EPL3.2 Genetic counsellors’ clinical practice in Europe: a mixed method assessment/approach on their contribution Charlotta Ingvoldstad, Dept of Clinical Science, Intervention and Technology , Div of Obstetrics and Gynaecology, Stockholm, Sweden

EPL3.3 Clinical Genetics Educational external assessment (EQA)- assuring improvement in the Clinical Service. Ros Hastings, Oxford Univ Hosp NHS Fndn Trust, Oxford, United Kingdom

EPL3.4 AWARDS The changing clinical practice of genomic medicine: what are the preferences of and education/training needs of health professionals? Sylvia A. Metcalfe, Murdoch Childrens Res Inst and Dept Paediatrics, Univ of Melbourne, Parkville, Vic, Australia

EPL3.5 Exploring the experiences of genetic health professionals with adoptees Rhiana Spinoso, Univ of Melbourne, Melbourne, Australia

EPL3.6

Learning the role of genomics in human health: the serious games experience EMPAG Serena Oliveri, Dept of Oncology and Hemato-Oncology, Univ degli Studi di Milano, Milan, Italy

20.00 – 21.30 hrs | Opening Networking Mixer (outside balcony and main entrance) INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 65 EMPAG PROGRAMME SUNDAY, JUNE 17

08.30 – 10.00 hrs Gold Room Symposium – S01: Prenatal Genetics (joint with ESHG)

Chairs: Sam Riedijk Antonio Percesepe GENERAL S01.1 Prospective analysis of 20,000 cases reveals that the combined use of cell-free DNA counting and size measurement improves specificity of NIPT Rossa Chiu, Hong Kong, Hong Kong

S01.2 Mommy and me sequencing: incidental detection of maternal abnormalities via non-invasive prenatal testing Diana Bianchi, Rockville, MD, USA

SATURDAY S01.3 Supporting informed choice for non-invasive prenatal testing in clinical practice: How well are we doing? Celine Lewis, London, United Kingdom

10.00 – 10.30 hrs | Coffee Break, Exhibition, Poster Viewing

10.15 – 11.15 hrs Poster Area SUNDAY Poster Viewing with Authors – Group A

11.15 – 12.15 hrs Amber 7+8 Brief Plenary Session – EBPL2: The Legal Side of Genomic Care

Chairs: Francesca Forzano MONDAY Edward Dove

EBPL2.1 The evolving duty of care in clinical genomics under UK law Alison E. Hall, PHG Fndn, Cambridge, United Kingdom

EBPL2.2 Concerns about genetic discrimination after regulation: a qualitative study of the situation regarding BRCA and Huntington’s disease in Belgium

TUESDAY Annet Wauters, KU Leuven, Leuven, Belgium

EBPL2.3 Life insurance and genetic discrimination: A barrier for genomic medicine in Australia Jane M. Tiller, Public Health Genomics, Sch of Public Health and Preventive Med, Monash Univ, Melbourne, Australia

EBPL2.4 Working with the public: engaging with consumers about the ethics of and decision to pursue personal genomic testing YIA Jacqueline Savard, The Univ of Sydney, Camperdown, Australia

SATELLITES 12.15 – 13.00 hrs | Lunch Break, Exhibition, Poster Viewing

13.00 – 14.30 hrs Amber 7+8 Symposium – ES1: Communication of genetic information with and within families

Organisers:

AWARDS Ramona Moldovan Sam Riedijk

ES1.1 Genetic counselling for children and adolescents: challenges going forward Mădălina Radu, Cluj-Napoca, Romania

ES1.2

EMPAG Facilitating Parents and their Children’s Communication about Genetic Conditions: Techniques and Activities Alison Metcalfe, Sheffield, United Kingdom

ES1.3 Communication about children’s genetic results through family networks: the case of newborn screening Fiona Ulph, Manchester, United Kingdom

14.30 – 15.00 hrs | Fruit Break, Exhibition, Poster Viewing INFORMATION

66 ESHG 2018 | Milan, Italy | www.eshg.org EMPAG PROGRAMME SUNDAY, JUNE 17

15.00 – 16.30 hrs Amber 7+8 GENERAL Workshop – W11: Recontacting in genetics (joint with ESHG)

Organisers: Elisabetta Razzaboni Francesca Forzano Discussants: EU survey on recontacting and EU recommendations on recontacting Prof. Peter Turnpenny SATURDAY Recontacting in research practice and in Biobanks Prof. Deborah Mascalzoni Legal aspects of recontacting Prof. Emmanuelle Rial-Sebbag

16.30 – 17.00 hrs | Coffee Break, Exhibition, Poster Viewing

16.45 – 17.45 hrs Poster Area SUNDAY Poster Viewing with Authors – Group B

17.45 – 19.15 hrs Amber 7+8 Plenary Session – EPL4: What’s New in Hereditary Cancer

Chairs: MONDAY Elisabetta Razzaboni Ignacio Blanco

EPL4.1 I remember the feeling not the gene: Families’ experiences of and attitudes towards genetic testing in childhood cancer YIA Brittany C. McGill, Sch of Women’s and Children’s Health, UNSW Sydney, Sydney, Australia

EPL4.2

Companions or patients? The impact of family presence in genetic counseling for hereditary breast cancer TUESDAY Sivia Barnoy, Tel-Aviv Univ, Tel Aviv, Israel

EPL4.3 Uptake of polygenic risk information among women at potentially high breast cancer risk YIA Tatiane Yanes, Univ of New South Wales, Sydney, Australia

EPL4.4

Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors’ and counselees’ views SATELLITES Niki M. Medendorp, Academic Medical Ctr, Amsterdam, Netherlands

EPL4.5 The efficacy of genetic counselling for familial colorectal cancer: a meta-analysis YIA Andrada Ciucă, Dept of Psychology, Babeș-Bolyai Univ, Cluj-Napoca, Romania

EPL4.6 Moving into the mainstream: Treatment focussed genetic testing a screening tool or diagnostic resource? Nina Hallowell, Univ of Oxford, Oxford, United Kingdom AWARDS EMPAG INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 67 EMPAG PROGRAMME MONDAY, JUNE 18

08.30 – 10.00 hrs Amber 7+8 Plenary Session – EPL5: To know or not to know

Chairs: Carla G. van El Rhona M. MacLeod GENERAL EPL5.1 1 in 39 individuals carries a dominant high-risk disease allele Helger G. Yntema, Dept Human Genetics, Nijmegen, Netherlands

EPL5.2 To report or not to report? That’s not the only question! Analysis of VUS reporting, variant reinterpretation, and recontact policies in clinical genomics consent forms Danya F. Vears, Ctr for Biomedical Ethics and Law, Dept of Public Health and Primary Care, KU Leuven, Leuven, Belgium SATURDAY EPL5.3 The patient voice in design of systems to share clinical genomic sequencing data Clara L. Gaff, Melbourne Genomics Health Alliance, Parkville, VIC, Australia

EPL5.4 Predicting willingness to receive four different types of genetic risk information - A population based study Ari Haukkala, Univ of Helsinki, Helsinki, Finland SUNDAY EPL5.5 Disclosure of incidental findings (IFs) and variants of uncertain significance (VUS) to patients: what happens in practice? YIA Julia el Mecky, Univ Medical Ctr Groningen, Groningen, Netherlands

EPL5.6 Consent for Genetic Testing and Disclosure of Results: Shifting the Paradigm to Non-Genetics Clinicians Kelly E. Ormond, Stanford Univ, Stanford, CA, USA

MONDAY 10.00 – 10.30 hrs | Coffee Break, Exhibition, Poster Viewing

10.15 – 11.15 hrs Poster Area Poster Viewing with Authors – Group C

11.15 – 13.00 hrs | Lunch Break, Exhibition, Poster Viewing TUESDAY

11.15 – 12.15 hrs Amber 7+8 Aad Tibben Lecture

Chairs: Elisabetta Razzaboni Sam Riedijk For the first time this year, EMPAG will have a special lecture to honour a scientist who has made an important mark in the field of psychological aspect of genetics. SATELLITES This year, we will start with its name giver Aad Tibben.

ET1.1 Title to be announced Aad Tibben, Leiden, Netherlands

13.00 – 14.30 hrs Amber 7+8 AWARDS Workshop – Contacting genetic relatives: practical implications and ethico-legal issues for healthcare professionals

Organisers: Edward Dove, Nadeem Qureshi Speakers: Melanie Watson, Maria Katapodi, Frederik Hes, Wendy van Zelst-Stams, Vicky Chico, Roy Gilbar For several decades, the principle of genetic cascade screening has been to only contact relatives indirectly through the index case. This is exemplified by the cascade screening set up for Huntington’s Disease. More recently, however, health professionals and families have enquired about the health professionals directly contacting relatives of affected individuals. Non-genetic specialist have used this approach – for example, lipid specialists contacting relatives of familial hypercholesterolemia directly by telephone or letter. Further, a recent court case in England has raised profound questions regarding the extent of legal duties owed by health care professionals to non-patient third parties, particularly genetic relatives. EMPAG In ABC v St George’s Healthcare NHS Trust, a claim was brought by the daughter of a male patient against his clinicians for their failure to inform her about his suffering from Huntington’s Disease (HD), including when she was pregnant. This EMPAG workshop will bring together leading genetics health professionals and ELSI experts to explore the benefits and harms of direct and indirect cascade screening, together with the benefits and harms of contacting genetic relatives (or not).

14.30 – 15.00 hrs | Fruit Break, Exhibition, Poster Viewing INFORMATION

68 ESHG 2018 | Milan, Italy | www.eshg.org EMPAG PROGRAMME MONDAY, JUNE 18

15.00 – 16.30 hrs Auditorium GENERAL Workshop – W13: Genomic Quiz (joint with ESHG)

Organisers: Joris Veltman Alexandre Reymond In an exciting new experiment, 2 teams as well as the audience will test their knowledge of the ESHG, genetics and Milan, using multiple choice questions, performance acts and audience participation, in an hopefully entertaining and educative quiz.

16.30 – 17.00 hrs | Coffee Break, Exhibition, Poster Viewing SATURDAY

16.45 – 17.45 hrs Poster Area Poster Viewing with Authors – Group D

17.45 – 19.15 hrs Amber 3+4 SUNDAY Workshop – Developing a multidisciplinary approach in clinical interpretation of NGS variants for Genetic Services

Organisers: Graeme Black, Georgina Hall

Description:

A key step in clinical reporting for NGS variant analysis involves multidisciplinary team meetings (MDTs) to discuss novel variants, when to report a VUS or incidental carrier findings and unexpected potentially clinically actionable results.

Such MDTs are now in place across a number of services and are set to increase significantly with the increasing role of whole exome/genome testing as a clinical service. In this MONDAY workshop, we plan to simulate a working model of an MDT that takes place monthly for ophthalmic genetic panels in Manchester with the aim of stimulating discussion around the roles of different participants at the MDT, reaching a consensus decision and communicating decisions to clinicians to feedback findings.

We encourage participants from centres delivering MDT interpretation services to share their expertise as well as participants new to interpretation MDTs. At the end of the workshop, we will use a participant survey to gather data on MDT working in relation to the communication and decision making process with a view to publishing this shared expertise at ESHG. TUESDAY EMPAG PROGRAMME TUESDAY, JUNE 19

09.00 – 10.30 hrs Gold Room

S17 – ESHG-ASHG Building Bridges Debate: Germline genome editing (joint with ESHG) SATELLITES

Chairs: Joris Veltman Heather Mefford Sam Riedijk

S17.1 CRISPR-Cas9: Advances and Challenges Emmanuelle Charpentier, Berlin, Germany AWARDS S17.2 Human germline genome editing: the ASHG position statement Kelly Ormond, Stantford, CA, United States

S17.3 National Academy of Sciences consensus statement on genome editing Luigi Naldini, Milan, Italy

S17.4 EMPAG Societal opportunities and challenges of genome editing Alta Charo, Madison, WI, USA

Debate

10.30 – 11.00 hrs | Coffee Break (Yellow Foyer) INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 69 EMPAG PROGRAMME TUESDAY, JUNE 19

11.00 – 12.30 hrs Yellow 1+2 Plenary Session – EPL6: Perinatal decision-making

Chairs: Martina C. Cornel Sam Riedijk GENERAL EPL6.1 Stakeholder views towards prenatal and postnatal fetal mesenchymal stem cell infusions for osteogenesis imperfecta Melissa Hill, NE Thames Regional Genetics Service, Great Ormond Street Hosp NHS Fndn Trust, London, United Kingdom

EPL6.2 Factors contributing to new parents’ perspectives on retention and secondary use of neonatal dried bloodspots - A mixed methods study in the Netherlands Marleen E. Jansen, APH research institute VU Univ Medical Ctr, Amsterdam, Netherlands SATURDAY EPL6.3 Slippery slope for oocyte donations Okan Atilan, Nicosia IVF Clinic, Nicosia, Cyprus

EPL6.4 Development and pilot study of the prenatal informed decision-making (PRENID)-scale: a measure for informed decision-making in first YIA trimester prenatal screening

SUNDAY Iris M. Bakkeren, Erasmus Medical Ctr, Rotterdam, Netherlands

EPL6.5 Short and long-term psychological impact of an active GP-provided couple-based ECS test-offer in the Dutch general population Juliette Schuurmans, Dept of Genetics, Univ Medical Ctr Groningen/ Univ of Groningen, Groningen, Netherlands

EPL6.6 Next-generation counseling: a model for non-invasive prenatal screening results disclosure and patient management Gabriel A. Lazarin, Counsyl, South San Francisco, CA, USA MONDAY 12.30 – 13.30 hrs | Lunch Break (Gold Foyer, Auditorium Foyer)

13.30 – 16.00 hrs Gold Room ESHG Award Sessions

TUESDAY PL3 Mendel Lecture Chairs: Joris Veltman, Gunnar Houge

PL3.1 CRISPR-Cas9: How bacteria revolutionize genome engineering Emmanuelle Charpentier, Berlin, Germany Laudation by Gunnar Houge

SATELLITES PL4 ESHG Award Lecture Chairs: Joris Veltman, Gunnar Houge

PL4.1 Causes and consequences of new mutations Matthew Hurles, Hinxton, United Kingdom Laudation by Joris Veltman AWARDS PL5 Award Ceremony Chairs: Joris Veltman, Gunnar Houge • ESHG Honorary Award to Helena Kääriäinen Laudation by Gunnar Houge • EJHG-SN Citation Awards

EMPAG • ESHG Young Investigator Awards: -- ESHG Young Investigator Awards for Outstanding Science -- 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 • EMPAG Young Investigator Award for the best oral presentation • ESHG Poster Awards in clinical research and basic science • Closing remarks INFORMATION

70 ESHG 2018 | Milan, Italy | www.eshg.org INFORMATION GENERAL INFORMATION REGISTRATION FEES NETWORKING EVENTS CORPORATE EXHIBITION

ESHG 2018 | Milan, Italy | www.eshg.org 71 INFORMATION GENERAL INFORMATION

Registration and Opening Hours

Opening Hours Registration and Preview Centre Friday, June 15 14.00 – 19.00 hrs Saturday, June 16 07.30 – 20.15 hrs

GENERAL Sunday, June 17 08.00 – 19.30 hrs Monday, June 18 08.00 – 19.30 hrs Tuesday, June 19 08.30 – 14.00 hrs Opening Hours Exhibition and Poster Area Friday, June 15 CLOSED! Saturday, June 16 09.30 – 18.30 hrs Sunday, June 17 09.00 – 17.45 hrs

SATURDAY Monday, June 18 09.00 – 17.45 hrs Tuesday, June 19 CLOSED! Badges Participants should collect name badges from the conference registration desk. As only registered participants will be permitted to attend 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. SUNDAY 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: Written cancellation received: – before April 7, 2018: 75% refund – between April 7 and May 31, 2018: 25% refund MONDAY – after May 31, 2018: no refund The date of the email/fax ID is the basis for considering refunds. Refunds will be made after the congress. No refunds can be made for a cancellation received after May 31, 2018, independent of the reason for the cancellation. No exceptions to the refund policy can be made, including health or family issues. Certificate of Attendance Certificates of attendance will be issued at the registration desk.

TUESDAY Insurance By registering to the ESHG 2018 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

Mobile App SATELLITES The mobile app with full programme and other useful information will be available for download two weeks before the conference. Please download the ESHG Society app from your App- or Play Stores, which also contains the conference data. Preview Centre Equipment for a final check of the sequence of your presentation is available in theroom Amber 5 + 6 – Preview Centre (on the second floor). All presenters should bring their electronic presentation to the Preview Centre not later than 2 hours before the start of the session (30 minutes for the first morning sessions). AWARDS 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, June 18, 2018: 16.45 – 17.45 hrs (strict!) Group D: Monday, June 18, 2018: 17.45 – 18.00 hrs (strict!) Posters that will not be removed by Monday, June 18, 2018, 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.

EMPAG Live Streaming in the Exhibition Hall The plenary lecture hall is equipped with a live transmission possibility to the Live area in the exhibition. The programme of the Gold Room will be transmitted to this area during exhibition opening hours. Coffee Breaks During the exhibition opening hours, 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 during designated break times. 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.

INFORMATION 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.

72 ESHG 2018 | Milan, Italy | www.eshg.org INFORMATION GENERAL INFORMATION

Venue GENERAL

Conference Venue MiCo – Milano Congressi Piazzale Carlo Magno, 1 Viale Eginardo – GATE 2 20149 Milano Italy SATURDAY Car Parking There is a parking lot right in front of the conference venue accessible through Gate 17. Cloakroom and Luggage A cloakroom and luggage storage are available in the registration area. WIFI WiFi is available throughout the conference venue. Network ID: eshg2018, password: eshg2018

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

Public transport

Buses & Trams

for the “viale Eginardo / viale Scarampo” entrance: MONDAY • Bus No. 78 – Eginardo/Colleoni stop for the “piazzale Carlo Magno / via Gattamelata” entrance: • Bus no. 78 – get off at Colleoni/Gattamelata • Tram no. 19 – get off at Boezio • Tram no. 27 – get off at Piazza 6 Febbraio Metro TUESDAY • Liliac Line 5: for the “viale Eginardo / viale Scarampo” entrance: get off at the “Portello” stop – 80 m from the Congress Centre. for the “piazzale Carlo Magno / via Gattamelata” entrance: get off at the “Portello” stop, walk along Via Colleoni and, on the right, Via Gattamelata for approx. 450 m, otherwise get off at the “Domodossola FNM” stop, and walk about 600 m towards the Congress Centre. • Red Line 1: for the “viale Eginardo / viale Scarampo” entrance: get off at the “Amendola” stop – 700 m from the Congress Centre, or at “Lotto” SATELLITES approx. 800 m. for the “piazzale Carlo Magno / via Gattamelata” entrance: get off at the “Cadorna” stop, exit the subway and go to the railroad station above : take the first train departing and get off at the “Domodossola” stop – just 600 m from the Congress Centre • Green Line 2: get off at “Cadorna”. for the “viale Eginardo / viale Scarampo” entrance: take Red Line 1 (going to RHO Fiera Milano) and get off at the “Amendola” stop – 700 m from the Congress Centre, or at “Lotto” approx. 800 m. for the “piazzale Carlo Magno / via Gattamelata” entrance: exit the subway and go to the railroad station above: take the first train

departing and get off at the “Domodossola” stop – just 600 m from the Congress Centre. AWARDS • Yellow Line 3: Get off at “Duomo”, switch to the Red Line 1 (RHO Fiera Milano direction). for the “viale Eginardo / viale Scarampo” entrance: get off at the “Amendola” stop – 700 m from the Congress Centre, or at “Lotto” approx. 800 m. for the “piazzale Carlo Magno / via Gattamelata” entrance: get off at the“Cadorna” stop, exit the subway and go to the railroad station above : take the first train departing and get off at the “Domodossola” stop – just 600 m from the Congress Centre.

Conference Policy EMPAG

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.

Late programme changes INFORMATION All contents are up-to-date as per date of printing. For changes in the scientific programme which occurred after the printingdeadline, please consult the website: https://2018.eshg.org/index.php/programme2018/late-programme-changes/ Language The official language of the congress will be English (no simultaneous translation).

ESHG 2018 | Milan, Italy | www.eshg.org 73 INFORMATION GENERAL INFORMATION

Smoking Policy The ESHG 2018 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. Social Media Guidelines Please see our full policy on our website. GENERAL 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.

Milan – General Information

Bank services – Money matters SATURDAY Banks are generally open from Monday to Friday from 8.30 a.m. to 1.30 p.m., and an hour and a half in the afternoon between 2.30 and 4.40 (closed on Saturdays and Sundays). Some branches are open from 9.00 – 12.00 hrs on Saturdays. There are multiple bank machines (ATMs) open 24 hours a day throughout the city which accept all major international bankcards. Major credit cards are widely accepted, but please always check beforehand. V.A.T. The VAT rate in Italy is 22%. The ESHG charges VAT on the registration fees. All stated prices charged by the ESHG include VAT. SUNDAY Emergency Services European Emergency Number: 112 Pharmacies – Medical Emergencies Most pharmacies are open during normal trading hours, a rotational service is in place. The following pharmacies are open 24/7: Farmacia della Stazione (Stazione Centrale -Piazza Duca D’Aosta, Phone:+39 02 63470362); Farmacia Stazione Porta Genova (Porta Genova – Piazzale Stazione Genova 5, Phone:+39 02 58101634).

MONDAY Safety – Crime Milan is 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. – 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. TUESDAY – 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. Telephone calls The country code of Italy is 39 and the area code for Milan is 02. If calling a number in Milan from within Italy (including Milan!), dial 02 before the subscriber number. GSM Cell Phone Roaming Roaming charges within the European Union have officially been abolished.The EU “roam like at home” rules mean that when you use SATELLITES your mobile phone while travelling outside your home country in any EU country you don’t have to pay any additional roaming charges. You benefit from these rules when calling (to mobile and fixed phones), sending text messages (SMS) and using data services while abroad. Time Zone Italy’s time zone is Central European Summer Time (CEST) – GMT +2 hours. Drinking water The tap water in Milan can be used without concern. AWARDS Electricity Supply 220-240 V – 50Hz AC, using CEI 23-50, CEI 23-5, some (older) sockets will not accept CEE 7/7 plugs, however in modern installations multiple standard sockets have been used. Taxis Taxis in Milan are not exactly cheap, as in most Italian cities. The meter should only be started as you set off. Many of them do not take credit cards. Inquire before boarding. Round up the tip to the nearest euro. Taxis cannot be hailed in the street. There are ranks (a white sign EMPAG marked with a black ‘TAXI’) at Piazza del Duomo, Teatro La Scala and Castello Sforzesco, outside all airport terminals and at the train stations. Most taxi drivers speak a little English and are usually only too happy to make recommendations of sights, shops and restaurants. If you speak to them in Italian, they will rapidly become your new best friend. Avoid bogus taxi drivers at the airports; they often over-charge by as much as 600 percent. Always go to the ranks outside the terminals. Licensed and metered taxis are white with yellow and black signs on top. Tipping Tipping is quite flexible in Milan as the ‘coperto’ (cover charge)/service charge is automatically added in the bill. However, if you are happy with the service then tipping the staff is acceptable. Taxi drivers, theatre and cinema usherettes, luggage handlers are also given a token

INFORMATION amount as a tip for their services, but you are not compelled to do so.

74 ESHG 2018 | Milan, Italy | www.eshg.org INFORMATION REGISTRATION FEES

before from April 7 to after GENERAL Registration Fees1 Day Tickets April 6, 2018 May 31, 2018 May 31, 2018 Payment received: on site (reduced rate) (regular rate) and on site Participants ESHG Members EUR 320.- EUR 420.- EUR 480.- EUR 160.- Participants Non-Members EUR 480.- EUR 580.- EUR 640.- EUR 220.- Postgraduate Trainees ESHG Members2 EUR 210.- EUR 310.- EUR 370.- EUR 140.- 2 Postgraduate Trainees Non- Members EUR 320.- EUR 420.- EUR 480.- EUR 160.- SATURDAY Counsellors/Gen.Nurses ESHG Members3 EUR 210.- EUR 310.- EUR 370.- EUR 140.- Counsellors/Gen.Nurses Non-Members3 EUR 320.- EUR 420.- EUR 480.- EUR 160.- Students4 EUR 110.- EUR 160.- EUR 210.- EUR 100.- ESHG Members from underprivileged countries5 EUR 210.- EUR 210.- EUR 210.- EUR 100.- Non-Members from underprivileged countries5 EUR 280.- EUR 280.- EUR 280.- EUR 120.- Lunch bags/boxes per day6 EUR 16.- to 23,- EUR 16.- to 23,- N/A N/A SUNDAY Participants/ Students/ Guests Postgrad. Trainees Networking Evening at own expense EUR 55.- EUR 35.- 1Registration Fees include 22% Italian VAT. 2Applies 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 at the registration desk. Confirmations handed in at a later stage cannot be considered.

3Applies to non-MD/PhD-Counsellors. MONDAY 4Applies 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. Confirmations handed in at a later stage cannot be considered. 5Applies to a selected list of countries. 6Not available onsite. Please see also the General Terms & Conditions for participants: https://2018.eshg.org/index.php/general-terms-and-conditions TUESDAY What is covered by the registration fee?

Participants: Guests (family members only): • Admission to all scientific sessions, exhibition and networking mixer • Access to the poster exhibition and the networking mixer • Electronic abstract book and printed programme (no admission to scientific sessions!) • Coffee/Tea during breaks from Saturday, June 16 to Tuesday, June 19 SATELLITES Payment of Registration fees, may be made in EURO by: • Credit Cards: Diners Club, Mastercard and Visa • Cash in Euro

IMPORTANT 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. AWARDS Cancellations and refunds Notice of cancellation had to be made in writing by email or fax to the Congress Office. Registration fees may be refunded as follows: Written cancellation received: – before April 6, 2018: 75% refund – between April 7 and May 31, 2018: 25% refund – after May 31, 2018: no refund EMPAG 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.

Participants are requested to make their own arrangements for health and travel insurance. The conference fee does not include insurance. INFORMATION 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 2018 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 2018 | Milan, Italy | www.eshg.org 75 INFORMATION NETWORKING EVENTS

Opening Networking Mixer

Saturday, June 16, 2018, 20.00 - 21.30 hrs – Outside Balcony and Main Entrance (at the registration area in case of bad weather) Network with your colleagues at this mixer on Saturday evening. Drinks and small snacks will be offered.

GENERAL The networking mixer is free of charge, however admission is only possible for registered participants.

ESHG Networking Evening (at own expense)

Monday, June 18, 2018, 20.00 hrs – Club Alcatraz The networking evening is a great opportunity to meet with friends and colleagues from around the world in a relaxed SATURDAY atmosphere, enjoying the unmatched charm and fascination of Milan. Those who have shared this evening with us in previous years know, one would not want to miss it. • Ticket: EUR 55.- • Students: EUR 35.- Dinner & drinks are included in the price.

SUNDAY Dress code: casual

INFORMATION LIST OF EXHIBITORS MONDAY 10x Genomics 436 EMQN – see European Molecular Illumina 540 Partek Incorporated 630 ACTIVE MOTIF 554 Genetics Quality Network 440 Imegen 386 Pass Software 438 ADS Biotec 624 enGenome 374 IMPC – see International Mouse PC PAL - PedigreeXP 318 Advanced Analytical Technologies 282 ENZO 326 Phenotyping Consortium 280 PCR Biosystems 532 Agilent Technologies 310 Eppendorf 384 INTEGRAGEN GENOMICS 392 PerkinElmer 442 American Society of Human ESHG - European Society Integrated DNA Technologies (IDT) 568 Personal Genomics 551 Genetics – ASHG 548 of Human Genetics 428 Interactive Biosoftware 418 PhenoSystems 380 AstraZeneca 549 European Molecular Quality International Mouse Phenotyping Platomics 614 TUESDAY Asuragen 482 Network (EMQN) 440 Consortium (IMPC) 280 Premaitha Health 484 Beckman Coulter 576 Eurofins Biomnis - Co-exhibitor of Intomics 320 Progeny Genetics 536 BGI Genomics 246 Eurofins Genoma 376 Invitae 476 Promega 542 Bio Molecular Systems 314 Eurofins Genoma 376 Irvine Scientific 238 qGenomics 557 bio.logis Genetic Information Eurofins Genomics 452 Isohelix 342 QIAGEN 244 Management 316 EvolveGene 612 JSI medical systems 260 Qlucore 388 Bioarray 545 Fabric Genomics 364 Lexogen 348 Randox Biosciences 434 BioDiscovery 430 Face2Gene 338 LGC 524 REFERENCE LABORATORY BIOKE 456 FDNA - see Face2Gene 338 Life & Brain 566 GENETICS 534 SATELLITES Biological Industries (BI) 412 FLUIDIGM 544 Limbus Medical Technologies 424 Resnova - Co-exhibitor Bionano Genomics 416 Frontiers in Genetics 620 Lucigen Corporation 562 Bio Molecular Systems 314 BioRep 632 Fulgent Genetics 322 Macrogen Europe 330 Retrophin 446 Bluebee 368 GE Healthcare 262 MédiFirst 252 Roche Sequencing Solutions 230 Blueprint Genetics 426 Gelisim Medical Laboratories Medirex 422 RuRo 634 Breda Genetics 390 Genetics Diagnostic Center 555 MediSapiens 250 Saphetor 234 Canon BioMedical 346 Genalice 444 Menarini Silicon Biosystems 550 SISTEMAS GENÓMICOS 578

AWARDS CeGaT 486 GeneConsult 538 Merck 616 SoftGenetics - CELEMICS 530 GENETEK BIOPHARMA 372 Metabolon 552 Co-exhibitor of BIOKÉ 456 CENTOGENE 362 GENEWIZ 474 MetaSystems Italy 522 SOPHiA GENETICS 528 CEQAS - see GenQA 570 Genial Genetics 344 MNG Laboratories 268 Springer Nature 462 CGC Genetics 518 Genialis 553 Molecular Biology Systems 414 Stilla Technologies 248 Charles River 556 Genome Diagnostics Nijmegen 242 MRC-Holland 572 Swift Biosciences 324 Chroma Technology 618 Genomed SA 610 NanoString Technologies 264 Technogenetics 584 Congenica 332 Genomed Ltd 448 New England Biolabs 454 Theragen 410

EMPAG COPAN GROUP 334 GenomeScan 458 NimaGen 370 Thermo Fisher Scientific 350 Covaris 460 Genomic Vision 236 NIPD Genetics 382 Twist Bioscience 266 Devyser 366 GenQA 570 Norgen Biotek 378 Variantyx 432 Diatech Pharmacogenetics 586 Genycell Biotech - Co-exhibitor of Novogene 636 Wellcome Genome Campus Digital China Health Technologies 420 Edge BioSystems 516 Orphanet - INSERM US14 547 Advanced Courses and DNA Genotek 472 GEPADO - Co-exhibitor of PASS Oxford Gene Technology 240 Scientific Conferences 560 Dovetail Genomics 450 Software 438 Oxford Nanopore Technologies 488 Westburg 622 Edge BioSystems 516 Golden Helix 312 PacBio 336 Wisepress Medical Bookshop 130 Elucigene Diagnostics 480 Hamilton Bonaduz, Robotics 352 Paragon Genomics 358 Zymo Research Europe 328 Health in Code 478 Parseq Lab 582 INFORMATION

76 ESHG 2018 | Milan, Italy | www.eshg.org INFORMATION EXHIBITION PLAN GENERAL SATURDAY SUNDAY Lead Retrieval & Poster Printing

Escalator to Registration, Exhibition Service Desk, MONDAY TUESDAY SATELLITES AWARDS EMPAG INFORMATION

ESHG 2018 | Milan, Italy | www.eshg.org 77 INFORMATION EXHIBITION

Exhibition & Poster Area – Level 0 – Dates & Opening Hours

Saturday, June 16, 2018: 09.30 – 18.30 hrs Sunday, June 17, 2018: 09.00 – 17.45 hrs Monday, June 18, 2018: 09.00 – 17.45 hrs GENERAL Tuesday, June 19, 2018: CLOSED Roche Sample Prep Solutions Products & Services Index The Index of Products and Services may be found in the ESHG App. Download the App, for iOS or Android, from iTunes App Store and Unlock the potential of every sample Google Play Store.

SATURDAY Exhibition Catalogue & Corporate Satellites Invites and Programmes

The Exhibition Catalogue & Corporate Satellites book, in your conference bag, lists exhibitors with further information on the companies and All NGS samples are precious, not only because most samples cannot be collected products, as well as invites to the corporate satellites, and their programmes. twice, but also due to the intrinsic value of the molecular information contained within each sample. As the first step in the NGS workflow continuum, Sample Prep holds the Floor Plan – Exhibition & Poster Topics key to unlocking the potential of every sample. Roche Sample Prep Solutions offer an

SUNDAY integrated approach to Sample Prep, addressing all of the steps required to convert a You will find the floor plan of the Exhibition and Poster Topics in your conference bag. sample to a sequencing-ready library.

Posters – Mounting, Viewing & Removal Schedules From sample collection to library quantification, we offer Sample Prep solutions for Poster presentations will be held in the exhibition hall from 16 – 18 June. different sample types and sequencing applications that are proven, simple and Poster mounting, viewing and removal times are: complete. Saturday, June 16, 2018: 09.30 – 18.30 hrs Poster mounting / viewing

MONDAY Sunday, June 17, 2018: 09.00 – 17.45 hrs Poster viewing Monday, June 18, 2018: 09.00 – 17.45 hrs Poster viewing 16.45 – 17.45 hrs Poster removal – Groups A–C (strict!) Visit sequencing.roche.com for more information. 17.45 – 18.00 hrs Poster removal – Group D (strict!) Posters not removed by 18.00 hrs on Monday, June 18 will be removed and will not be stored or sent to authors after the meeting but discarded.

TUESDAY Coffee Breaks, Cash Bar, Lunch For Research Use only. Not for use in diagnostic procedures. Official coffee breaks, as per the final programme, will be held in the Exhibition hall on Saturday, Sunday and Monday. MAGNA PURE is a trademark of Roche. Also outside the official coffee break times there will be free coffee and tea in the exhibition .hall © 2018 Roche Sequencing Solutions, Inc. All rights reserved. SEQ100238 The Cash Bar in the Exhibition hall is open during exhibition opening hours. The menu includes sandwiches, salads, pasta, drinks and special coffees. The menu is available at the Cash Bar. Payment in cash (EURO) or credit card. Pre-ordered lunch bags will be available during lunch breaks at the coffee break areas. Lunch bags cannot be ordered on-site.

SATELLITES Lead Retrieval System used by Companies

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 HAVE to ask permission to scan the barcode on your badge. Refusal to have your badge scanned does not entitle a company to deny you access to their corporate satellite and/or to enter an activity at their stand.

AWARDS • This barcode gives this company access to your contact details as follows (note: only in case you opted for this during the registration process AND if agreed with the company scanning your badge): o name and full postal address o e-mail address Thank you for your understanding and cooperation.

EMPAG Exhibition Management

Name ROSE INTERNATIONAL Exhibition Management & Congress Consultancy bv Address P.O. Box 93260 NL-2509 AG The Hague, the Netherlands Telephone +31 (0)70 383 89 01 Fax +31 (0)70 381 89 36 E-mail [email protected] INFORMATION

78 ESHG 2018 | Milan, Italy | www.eshg.org Roche Sample Prep Solutions Unlock the potential of every sample

All NGS samples are precious, not only because most samples cannot be collected twice, but also due to the intrinsic value of the molecular information contained within each sample. As the first step in the NGS workflow continuum, Sample Prep holds the key to unlocking the potential of every sample. Roche Sample Prep Solutions offer an integrated approach to Sample Prep, addressing all of the steps required to convert a sample to a sequencing-ready library.

From sample collection to library quantification, we offer Sample Prep solutions for different sample types and sequencing applications that are proven, simple and complete.

Visit sequencing.roche.com for more information.

For Research Use only. Not for use in diagnostic procedures. MAGNA PURE is a trademark of Roche. © 2018 Roche Sequencing Solutions, Inc. All rights reserved. SEQ100238 Uncover a world of possibilities Transforming the future of genomics, together

Visit us at booth 540 at ESHG 2018 to learn about our latest advancements in genomic solutions. From whole-genome sequencing to single cell sequencing, we have solutions across the genomic spectrum.

Experience the iSeqTM 100 Sequencing System Introducing AmpliSeqTM for Illumina The iSeq 100 System is our smallest, most affordable Learn how AmpliSeq for Illumina provides researchers sequencer, letting you expand the scope of your with a high-confidence solution to detect variants research without the cost. with flexible input ranges and sample types.

Attend the Illumina Satellite Workshop Sunday, 17 June | 19.15 – 20.45 | Amber 3 & 4

For Research Use Only. Not for use in diagnostic procedures. © 2018 Illumina, Inc. All rights reserved. www.illumina.com