There’s nothing more 1967 - 2017 | 50th Anniversary Meeting personal than genomics Discover genomic solutions across the research continuum Visit us at stand 140 and discover how our portfolio of next-generation sequencing (NGS), microarray and informatic solutions can help empower your next breakthrough. EUROPEAN HUMAN Come learn how you can become a part of the scientic innovation happening in: GENETICS CONFERENCE 2017 • Complex Diseases • Rare or Undiagnosed Genetic Diseases Bella Center | Copenhagen, Denmark | May 27 - 30 • Reproductive Health • Cancer Genetics • Microbiology Experience the NovaSeq™ Series Discover a leap forward in technology by attending one of our stand presentations, or take a virtual reality tour. Attend the Illumina Satellite Workshop Sunday, 28 May | 19.15 – 20.45 | Room Ballerup Anniversary Meeting | Programme | European Human Genetics Conference 2017 | Copenhagen - Denmark 2017 | Copenhagen Human Genetics Conference | European Anniversary Meeting | Programme th 1967 - 2017 | 50 www.illumina.com Programme For Research Use Only. Not for use in diagnostic procedures. © 2017 Illumina, Inc. All rights reserved. European Society www.eshg.org @eshgsociety of Human Genetics facebook.com/eshg.org #eshg2017 GENERAL FLOORPLAN METRO Ground Floor Ballerup LECTURE HALLS B - CORPORATE SATELLITES Berlin Barcelona Brussels Birmingham Belgrade WC WC WC WC Bags Registration CENTERHALL Exhibition Service WC Athens Lead Retrieval Poster Printing LECTURE HALLS A Cambridge Gastro Café Exhibition Aarhus Centre Coffee & Lunch Preview Copenhagen Cash Bar MAIN LOBBY Live Stream Posters Amsterdam E-Posters WC AC Hotel FOYER Bella Sky LECTURE HALLS C Cannes Main Entrance Cologne First Floor 5 Athens CENTERHALL 16 17 WC 18 25 A Aarhus 18 19 20 LECTURE HALLS A Amsterdam MAIN LOBBY FOYER Ancona conf. 1st Antwerp LOBBY Alicante 2 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 2 THE EUROPEAN SOCIETY OF HUMAN GENETICS EUROPEAN HUMAN GENETICS CONFERENCE 2017 Bella Center | Copenhagen, Denmark | May 27 - 30 PROGRAMME ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG 3 GENERAL TABLE OF CONTENTS General GENERAL Floorplan of the Bella Center ...........................................................................................................................................................................................................................2 Welcoming Address .............................................................................................................................................................................................................................................5 Committees - Board - Organisation ...............................................................................................................................................................................................................6 Acknowledgements ............................................................................................................................................................................................................................................7 Future ESHG Conferences .................................................................................................................................................................................................................................7 CME Credits ............................................................................................................................................................................................................................................................7 Get the Most out of ESHG 2017.......................................................................................................................................................................................................................8 SATURDAY Session Type Description ...................................................................................................................................................................................................................................9 Programme at a Glance ................................................................................................................................................................................................................................... 10 Poster Topics ....................................................................................................................................................................................................................................................... 14 Information for Presenters of Posters and Talks ..................................................................................................................................................................................... 14 SUNDAY ESHG Scientific Programme - Saturday, May 27 ............................................................................................................................................................................................................................................. 15 - Sunday, May 28 ................................................................................................................................................................................................................................................ 21 - Monday, May 29 .............................................................................................................................................................................................................................................. 29 - Tuesday, May 30 .............................................................................................................................................................................................................................................. 37 MONDAY Programme Information Corporate Satellite Meetings ........................................................................................................................................................................................................................ 45 Business and Ancillary Meetings ................................................................................................................................................................................................................. 54 ESHG Award and Mendel Lecturers ............................................................................................................................................................................................................ 55 ESHG Award Lecturer Interview ................................................................................................................................................................................................................... 56 ESHG Young Investigator Awards ................................................................................................................................................................................................................ 57 Young Investigator Award Candidates, Presentation and Interviews ............................................................................................................................................ 58 TUESDAY Poster Award Candidates, Presentation and Interviews ..................................................................................................................................................................... 72 Information General Information ......................................................................................................................................................................................................................................... 79 Registration Fees ............................................................................................................................................................................................................................................... 83 Networking Events ........................................................................................................................................................................................................................................... 84 SATELLITES List of Exhibitors ................................................................................................................................................................................................................................................ 84 Exhibition Floor Plan ........................................................................................................................................................................................................................................ 85 Exhibition Information (see the Exhibition Catalogue for more information) ............................................................................................................................ 86 AWARDS INFORMATION 4 ESHG 2017 | COPENHAGEN, DENMARK | WWW.ESHG.ORG GENERAL WELCOMING ADDRESS GENERAL Dear Colleagues and Friends, On behalf of the board of the European Society of Human Genetics, I would like to cordially welcome you to the European Human Genetics Conference 2017 in Copenhagen, Denmark. th The ESHG 2017 marks the 50 Anniversary of