Monday, June 18

Chair: Martin Kircher
Room: Gold Room

S09.1 Applications and analysis methods for nanopore sequencing data

Jared Simpson;
Toronto, Canada

S09.2 Whole organism lineage tracing

Alexander F. Schier;
Cambrige, MA, United States

S09.3 Genome-wide identification of human non-coding variants that affect regulatory elements

Bas van Steensel;
Amsterdam, The Netherlands

Chair: Lucy Raymond, Marco Seri
Room: Auditorium

S10.1 Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Elise Robinson;
Cambridge, MA, United States

S10.2 Genetic diagnosis of Mendelian Diorsorder via RNA sequencing

Holger Prokisch;
Munich, Germany

S10.3 Pathogenic variants that alter protein code often disrupt splicing

William G. Fairbrother;
Providence, RI, United States

Chair: Lucia Migliore, Monica Miozzo
Room: Brown 3

S11.1 Epigenetic mechanisms regulating energy balance

Robert A. Waterland;
Houston, TX, United States

S11.2 Epigenetic therapies for neurodegenerative and neuropsychiatric diseases

Cemil Kerimoglu;
Goettingen, Germany

S11.3 Epigenetics of major psychiatric disease: the circadian perspective

Arturas Petronis;
Toronto, Canada

Chair: Valerie Cormier-Daire, Sandro Banfi
Room: Blue 1+2

S12.1 The non-coding morbid genome in inherited retinal diseases

Elfride De Baere;
Ghent, Belgium

S12.2 Monosymptomatic and syndromic childhood-onset severe retinal dystrophies: News and Views

Jean-Michel Rozet;
Paris, France

S12.3 Seeing disease through stem cells: using patient iPSC to understand disease mechanisms and test therapies

Michael Cheetham;
London, United Kingdom

Chair: Maris Laan
Room: Red 1+2

E10.1 Genetic basis of male reproductive disorders

Csilla Krausz;
Florence, Italy

E10.2 Genetic basis of female reproductive disorders

Lawrence C. Layman;
Augusta, GI, United States

Chair: Karin Writzl
Room: Yellow 1+2

E11.1 The ageing process

Jan Hoeijmakers;
Rotterdam, The Netherlands

E11.2 Treatment strategies for premature ageing

Brian K. Kennedy;
Singapore, Singapore

Chair: Philippos Patsalis, Antonio Novelli
Room: Gold Room

C13.1 Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies

Marjan M. Weiss, R.H. Galjaard, E.A. Sistermans, C.J. Bax, M.N. Bekker, C.E.M. de Die-Smulders, I. Feenstra, M.J.V. Hoffer, N.S. den Hollander, M.F.C.M. Knapen, I.M. van Langen, K.D. Lichtenbelt, P.M. Lombardi, M.C. van Maarle, K.R.M. van der Meij, M.J. Pieters, G.H. Schuring-Blom, E. Sikkel, S.J. Stevens, R.F. Suijkerbuijk, A.J.E.M. van der Ven, D. Van Opstal, L. Henneman, M.V. Macville, Dutch NIPT Consortium;
Amsterdam, Netherlands

C13.2 Rapid Prenatal Diagnosis through Targeted Exome Sequencing: A Cohort study

Francesca Faravelli, N. Chandler, S. Best, J. Hayward, S. Mansour, E. Kivuva, D. Tapon, A. Male, C. DeVile, L. Chitty;
London, United Kingdom

C13.3 Temporal dynamics of placental gene expression

Mario Reiman*, S. Sõber, M. Laan;
Tartu, Estonia

C13.4 Assessing the landscape of selfish de novo mutations in human testes

Geoffrey J. Maher, H.K. Ralph, Z. Ding, N. Koelling, H. Mlcochova, E. Giannoulatou, P. Dhami, G. McVean, A.O.M. Wilkie, A. Goriely;
Oxford, United Kingdom

C13.5 X-chromosome exome sequencing in highly selected idiopathic azoospermic patients: identification of novel and recurrent genetic factors for early spermatogenic failure

Antoni Riera-Escamilla*, D. Moreno-Mendoza, L. Nagirnaja, J. Rusch, E. Ruiz-Castañé, E. Ars, D.F. Conrad, C. Krausz;
Barcelona, Spain

C13.6 Dysfunctional SEMA3G signalling underlies familiar hypogonadotropic hypogonadism & defective GnRH neuron migration

Anna Cariboni, A. Lettieri, R. Oleari, S. Tahir, K. Hussain;
Milan, Italy

Chair: Reiner A. Veitia, Judith Grollemann
Room: Auditorium

C14.1 Tet1 and Tdg suppress intestinal tumorigenesis by downregulating the inflammatory and immune responses in the Apc^Minmouse model

Rossella Tricarico, J. Madzo, G. Scher, J. Jelinek, J. Ingram, I. Peshkova, W. Chang, E. Nicolas, Y. Zhou, K. Devarajan, S. Maegawa, V. Doneddu, L. Bagella, H. Cooper, S. Balachandran, M. Clapper, S. Grivennikov, E. Koltsova, J. Issa, A. Bellacosa;
Philadelphia, United States

C14.2 Lynch syndrome families with heritable constitutional epimutation reveal the diversity of genetic events associated with methylation of MLH1 promoter

Julie Leclerc, C. Flament, T. Lovecchio, L. Delattre, E. Ait Yahya, S. Baert-Desurmont, N. Burnichon, M. Bronner, O. Cabaret, S. Lejeune, R. Guimbaud, G. Morin, J. Mauillon, P. Jonveaux, P. Laurent-Puig, T. Frébourg, N. Porchet, M. Buisine;
Lille, France

C14.3 Oxidative modification of cell-free DNA fragments promotes their penetration into stem and cancer cells and activates adaptive response

Vasilina Sergeeva*, E. Malinovskaya, V. Veiko, E. Ershova, L. Kameneva, M. Konkova, N. Veiko, A. Kalyanov, M. Abramova, E. Savinova, S. Kostyuk;
Moscow, Russian Federation

C14.4 Accurate functional classification of thousands of BRCA1 variants with saturation genome editing

Gregory M. Findlay*, R. Daza, B.K. Martin, M.D. Zhang, A.P. Leith, M. Gasperini, J.D. Janizek, L.M. Starita, J. Shendure;
Seattle, United States

C14.5 A whole-exome case-control study of soft-tissue sarcoma

F. Hu, Y. Yu, J. Chen, P. Scheet, Chad D. Huff;
Houston, United States

C14.6 Rare variants in the Aicardi-Goutières syndrome genes ADAR and RNASEH2B and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis

F. Brand, U. Beyer, H. Martens, J. Weder, A. Christians, N. Elyan, B. Hentschel, M. Westphal, G. Schackert, T. Pietsch, B. Hong, J.K. Krauss, A. Samii, P. Raab, A. Das, C.A. Dumitru, I.E. Sandalcioglu, O.W. Hakenberg, A. Erbersdobler, U. Lehmann, G. Reifenberger, M. Weller, M.A.M. Reijns, M. Preller, B. Wiese, C. Hartmann, Ruthild G. Weber;
Hannover, Germany

Chair: Julie McGaughran, Fiorella Gurrieri
Room: Red 1+2

C15.1 The ARID1B spectrum: From non-syndromic intellectual disability to Coffin-Siris syndrome

E.P.J. van der Sluijs, J. Clayton-Smith, Gijs W.E. Santen;
Leiden, Netherlands

C15.2 Novel gene and pathomechanism in Cornelia de Lange syndrome

Ilaria Parenti*, S. Ruiz Gil, J. Pié, T.M. Strom, R. Brouwer, F. Diab, V. Dupé, G. Gillessen-Kaesbach, E. Mulugeta, W. van IJcken, F. Ramos, E. Watrin, K.S. Wendt, F.J. Kaiser;
Lübeck, Germany

C15.3 New models for human diseases from the International Mouse Phenotyping Consortium

Pilar Cacheiro, T. Konopka, D. Smedley, A. Mallon, T. Meehan, H. Parkinson;
London, United Kingdom

C15.4 Thrombocytopenia Microcephaly Syndrome – a novel phenotype associated with ACTB mutations

S.L. Latham, N. Ehmke, P.Y.A. Reinke, M.H. Taft, M.J. Lyons, M.J. Friez, J.A. Lee, R. Hecker, M.C. Frühwald, K. Becker, T.M. Neuhann, E. Schrock, K. Sarnow, K. Grützmann, L. Gawehn, B. Klink, Andreas Rump, C. Chaponnier, R. Knöfler, D. Manstein, N. Di Donato;
Dresden, Germany

C15.5 The Genomic Autopsy Study: using genomics as an adjunct to standard autopsy to unlock the cause of complex fetal and neonatal presentations

Christopher P. Barnett, A.B. Byrne, P. Arts, J. Feng, P.S. Wang, A. Schrieber, P. Brautigan, M. Babic, W. Waters, L. Pais, S. Yu, J. Lipsett, L. Moore, N. Manton, Y. Khong, E. Luddington, E. Thompson, J. Liebelt, L. McGregor, M. Dinger, D.G. MacArthur, S. King-Smith, C. Hahn, K. Kassahn, H. Scott;
North Adelaide, Australia

C15.6 Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

S. Martinelli, O. Krumbach, Francesca Pantaleoni, S. Coppola, E. Amin, L. Pannone, K. Nouri, L. Farina, R. Dvorsky, F. Lepri, M. Buchholzer, R. Konopatzki, L. Walsh, K. Payne, M.E. Pierpont, S. Vergano, K. Langley, D. Larsen, K. Farwell, S. Tang, C. Mroske, I. Gallotta, E. Di Schiavi, M. della Monica, L. Lugli, C. Rossi, M. Seri, G. Cocchi, L. Henderson, B. Baskin, M. Alders, R. Mendoza-Londono, L. Dupuis, D. Nickerson, J. Chong, N. Meeks, K. Brown, T. Causey, M. Cho, S. Demuth, M. Digilio, B. Gelb, M. Bamshad, M. Zenker, M. Ahmadian, R. Hennekam, M. Tartaglia, G. Mirzaa;
Roma, Italy

Chair: Trine Prescott, Maria Giuseppina Miano
Room: Brown 3

C16.1 High throughput characterization of genetic effects on DNA:protein binding and gene transcription

C. Kalita, C. Brown, A. Freiman, X. Wen, Roger Pique-Regi, F. Luca;
Detroit, United States

C16.2 A pedigree-based estimate of the human germline retrotransposition rate

Julie E. Feusier*, W. Watkins, J. Thomas, L. Baird, M. Leppert, L.B. Jorde;
Salt Lake City, United States

C16.3 Multivariate analysis of immune phenotypes reveals novel genetic and context specific genetic factors for cytokine production capacity

Raul A. Aguirre-Gamboa*, O. Bakker, T. Spenkelink, U. Võsa, M. Jaeger, M. Oosting, S. Smeekens, R. Netea-Maier, R. Xavier, I. Jonkers, L. Franke, L.A.B. Joosten, S. Sanna, V. Kumar, C. Wijmenga, M. Netea, Y. Li;
Groningen, Netherlands

C16.4 Time informative markers to date ancient Skeletons

Umberto Esposito*, G. Holland, E. Elhaik;
Sheffield, United Kingdom

C16.5 A homozygous loss-of-function mutation in C17orf62 causes chronic granulomatous disease

Gudny A. Arnadottir*, G.L. Norddahl, S. Gudmundsdottir, A.B. Agustsdottir, S. Sigurdsson, B.O. Jensson, K. Bjarnadottir, F. Theodors, S. Benonisdottir, E.V. Ivarsdottir, A. Oddsson, R.P. Kristjansson, G. Sulem, G. Masson, K.B. Orvar, H. Holm, S. Bjornsson, R. Arngrimsson, D.F. Gudbjartsson, U. Thorsteinsdottir, I. Jonsdottir, A. Haraldsson, P. Sulem, K. Stefansson;
Reykjavik, Iceland

C16.6 The neurodevelopmental 16p11.2 CNVs have, as yet overlooked, mirror effect on sexual development in humans and animal models

Katrin Mannik, M. Lepamets, A. Mikhaleva, K. Lepik, Z. Kupchinsky, H. Ademi, T. Arbogast, A. Messina, S. Rotman, E. Dubruc, J. Chrast, S. Martin-Brevet, T. Laisk-Podar, The 16p11.2 European Consortium, The Simons VIP Consortium, The eQTLGen Consortium, Y. Herault, C.M. Lindgren, Z. Kutalik, J.C. Stehle, N. Katsanis, S. Nef, B. Draganski, E.E. Davis, R. Magi, A. Reymond;
Lausanne, Switzerland

Chair: Kinga Hadzsiev, Marcella Zollino
Room: Blue 1+2

C17.1 De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability

Sébastien Küry, G.M. van Woerden, T. Besnard, X. Latypova, M.T. Cho, S. Sanders, H.A.F. Stessman, E.A. Sellars, J. Berg, J.L. Waugh, L.A. Robak, J.A. Bernstein, M. Deardorff, G.E. Hoganson, D.S. Johnson, T. Dabir, A. Sarkar, G. Lesca, P.A. Terhal, T.E. Prescott, D.K. Grange, A. van Haeringen, C. Lam, G. Mirzaa, K.L. Helbig, A. Afenjar, C. Nava, A. Vitobello, L. Faivre, B. Cogné, J.A. Rosenfeld, P.B. Agrawal, CAMK2A/B Consortium, S. Odent, S. Bézieau, Y. Elgersma, S. Mercier;
Nantes, France

C17.2 Rotatin mutations impair bipolar mitotic spindle formation leading to a wide spectrum of brain malformations

Laura V. Vandervore*, R. Schot, E. Kasteleijn, R. Oegema, F. Verheijen, A. Gheldof, K. Stouffs, R. Poot, W.B. Dobyns, N. Bahi-Buisson, A.C. Jansen, G. Mancini;
Brussels, Belgium

C17.3 Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autistic features or cerebellar ataxia

Xenia Latypova*, C. Guissart, T.N. Khan, P. Rollier, H. Stamberger, K. McWalter, M.T. Cho, S. Kjaergaard, S. Weckhuysen, G. Lesca, T. Besnard, K. Õunap, L. Schema, A.G. Chiocchetti, M. McDonald, J. de Bellescize, M. Vincent, H. Van Esch, S. Sattler, I. Forghani, I. Thiffault, C.M. Freitag, D. Barbouth, M. Cadieux-Dion, N.P. Saffina, L. Grote, W. Carré, C. Saunders, S. Pajusalu, A. Boland, D. Hays Karlowicz, J. Deleuze, M.H. Wojcik, R. Pressman, B. Isidor, A. Vogels, W. Van Paesschen, F. Rivier, N. Leboucq, B. Cogné, S. Sasorith, D. Sanlaville, K. Retterer, S. Odent, N. Katsanis, S. Bézieau, M. Koenig, L. Pasquier, E.E. Davis, S. Küry;
Nantes, France

C17.4 Description of novel intellectual disability genes involved in RNA metabolism

Francesca Mattioli*, B. Isidor, C. Balak, M. Benard, E. Schaefer, M. Hinckelmann-Rivas, V. Geoffroy, J. Muller, A. Lebechec, J. Deleuze, A. Boland, H. Dollfus, J. Chelly, K. Ramsey, F. Tran-Mau-Them, S. Nambot, N. Jean, A. Telegraphi, A. Boughton, C. Gamble, M. Cho, Z. Shad, E. Kaplan, R. Dineen, M. Huentelman, V. Narayanan, D. Weil, J. Mandel, A. Piton;
Illkirch, France

C17.5 OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome

Uddin Mohammed*, B.K. Unda, V. Kwan, N.T. Holzapfel, S.H. White, L. Chalil, M. Woodbury-Smith, K.H. Ho, E. Harward, N. Murtaza, B. Dave, G. Pellecchia, L. D’Abate, T. Nalpathamkalam, S. Lamoureux, J. Wei, M. Speevak, J. Stavropoulos, K.J. Hope, B.W. Doble, J. Nielsen, R. Wassman, S.W. Scherer, K.K. Singh;
Dubai, United Arab Emirates

C17.6 Abnormal Social and Cognitive Behavior is associated with Inherited Noncoding Mutations in Human Accelerated Regions (HARs)

Ryan N. Doan, T. Shin, B. Bae, B. Cubelos, C. Chang, A.A. Hossain, S. Al-Saad, N.M. Mukaddes, O. Oner, M. Al-Saffar, S. Balkhy, G.G. Gascon, M. Nieto, C.A. Walsh;
Boston, United States

Chair: Valeria Novelli, William Newman
Room: Yellow1+2

C18.1 A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt/b-catenin signaling and miRNA dysregulation

Martina Calore, A. Lorenzon, L. Vitiello, G. Poloni, G. Beffagna, E. Dazzo, R. Polishchuk, P. Sabatelli, R. Doliana, D. Carnevale, G. Lembo, P. Bonaldo, L.J. de Windt, P. Braghetta, A. Rampazzo;
Maastricht, Netherlands

C18.2 Large-scale meta-analysis of GWAS in over one million individuals identifies more than 1,000 novel independent variants associated with blood pressure

Evangelos Evangelou, H. Warren, D. Mosen-Ansorena, B. Mifsud, R. Pazoki, H. Gao, G. Ntritsos, N. Dimou, J.N. Hellwege, A. Giri, T. Esko, A. Metspalu, A.M. Hung, C.J. O’Donnell, T.L. Edwards, I. Tzoulaki, M. Barnes, L.V. Wain, P. Elliott, M. Caulfield;
Ioannina, Greece

C18.3 Whole genome sequencing improves genetic testing outcomes in hypertrophic cardiomyopathy

Richard D. Bagnall, J. Ingles, M.E. Dinger, M.J. Cowley, S. Barratt-Ross, A.E. Minoche, S. Lal, C. Turner, A. Colley, S. Rajagopalan, Y. Berman, A. Ronan, D. Fatkin, C. Semsarian;
Sydney, Australia

C18.4 Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling

Nicole Revencu, M. Amyere, R. Helaers, E. Pairet, E. Baselga, M. Cordisco, W. Chung, J. Dubois, J. Lacour, L. Martorell, J. Mazereeuw-Hautier, R. Pyeritz, D. Amor, A. Bisdorff, F. Blei, H. Bombei, A. Dompmartin, D. Brooks, J. Dupont, M. González-Enseñat, I. Frieden, M. Gerard, M. Kvarnung, A. Kwan Hanson-Kahn, L. Hudgins, C. Léauté-Labrèze, C. McCuaig, D. Metry, P. Parent, C. Paul, F. Petit, A. Phan, I. Quere, A. Salhi, A. Turner, P. Vabres, A. Vicente, O. Wargon, S. Watanabe, L. Weibel, A. Wilson, M. Willing, J. Mulliken, L. Boon, M. Vikkula;
Brussels, Belgium

C18.5 Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Melodie Aubart*, S. Gazal, P. Arnaud, L. Benarroch, M. Gross, J. Buratti, A. Boland, V. Meyer, N. Hanna, O. Milleron, C. Stheneur, H. Zouali, T. Bourgeron, I. Desguerre, M. Jacob, L. Gouya, E. Genin, J. Deleuze, G. Jondeau, C. Boileau;
Paris, France

C18.6 Nationwide study associates atrial fibrillation with titin-truncating variants

G. Ahlberg, L. Refsgaard, P.R. Lundegaard, L.S. Andreasen, M.F. Ranthe, N.S. Linscheid, J.S. Nielsen, M.S. Melbye, S. Haunsø, A. Sajadieh, S. Olesen, S. Rasmussen, A. Lundby, P.T. Ellinor, A.G. Holst, J.H. Svendsen, Morten S. Olesen;
Copenhagen, Denmark

Organiser: Sofia Douzgou, Peter Krawitz
Room: Gold Room

The workshops will focus on but is not limited to complex cases with facial dysmorphic features and known diagnoses which are particularly educational and demonstrate new clinical information. Cases for presentation should be brought to the auditorium in the break before the workshop starts. Each presenter is asked to give a concise outline of their case and demonstrate the relevant features in a short (approximately 6 slides) PowerPoint presentation. As an additional input to the discussion we will provide and explain results from DeepGestalt (Face2Gene).

Room: Auditorium

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.

Organiser: Nicole de Leeuw, NL, Conny van Ravenswaaij, NL

Room: Red 1+2

Programme outline:

Various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting will be discussed in this interactive session. Data including multi-, intra- and intergenic CNVs detected by either genome wide array analysis or in Whole Exome Sequencing data will be presented.

Detailed programme:

The aim of this workshop is to focus on various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting. We will talk about multi-, intra- and intergenic CNVs detected by genome wide array analysis, but also CNV detection in Whole Exome Sequencing data will be included. We will use illustrative cases from our own diagnostic laboratories to have an interactive discussion on the more challenging findings, including reduced-penetrant, recurrent CNVs and structurally rearranged chromosomal imbalances as well as patients with compound heterozygous variants in a recessive disease gene.

We will have an app-based feedback system available for this interactive session, so please bring your smart phone, tablet or laptop.

Participants are invited to send questions, comments or suggestions related to this topic by e-mail to Nicole.deLeeuw@radboudumc.nl before June 16, 2018.

Organiser: Bertram Müller-Myhsok, Cesare Furlanello

Room: Brown 3

Big data, their analysis and usage clearly has and still is growing as an area of intense discussion and development. It offers both challenges and opportunities for learning about (human) phenotypes and diseases. Data can be big in various ways, including sample size, but also in dimensionality: approaches for analysis and making sense of it all is the theme of our workshop.

To this end we will have four presentations and a short general discussion to summarize.

Rethinking Deep Learning for Omics Data – Cesare Furlanello, Fondazione Bruno Kessler, Trento, Italy

Fast GPGPU matrix manipulations enabling combinatorial multi-omics analysis in large data-sets – Beibei Jiang, Max Planck Institute of Psychiatry, Munich, Germany

From single-trait genomics to multi-omics analyses: addressing the missing data issue – Inga Prokopenko, Imperial College London, London, UK

IMI-AETIONOMY: a Big Data approach integrating data and knowledge in graph models – Martin Hofmann-Apitius, Fraunhofer Institute for Algorithms and Scientific Computing (SCAI), Sankt Augustin, Germany

Organisers: Luca Lovrecic, HR, Ales Maver, SI

Room: Blue 1+2

Although there is an increasing body of evidence that demonstrates the accuracy of next-generation sequencing, there is still no consensus on using Sanger sequencing to assure quality needed in diagnostic reporting. A short presentation on the subject will open this workshop.

Peter Bauer: “How much Sanger validation is necessary in NGS diagnostics?”

(Peter Bauer, University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany)

It is now the third year of NGS data quality external assessment scheme and presentation of results and future perspectives will be shared with workshop participants.

Sandi Deans: “Ensuring your NGS data quality – the EQA perspective”

(Sandi Deans, PhD, Scheme Director at GenQA; National Laboratory and Scientific Lead, Genomics Implementation Unit, NHS England)

Although there is little variability in the technical part of whole exome/whole genome analysis  across institutions, the  interpretation is becoming the major source of discrepancies between reports. Several steps can be done to minimise the negative impact of this challenge, for example a systematic approach to collection of data on patients and controls and using this information for assistance and harmonisation of variant classification. An experience from CardioDB project will be presented.

Roddy Walsh: TBA

(Roddy Walsh, Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK ; National Heart & Lung Institute, Imperial College London, London, UK)

One of the important pieces of the puzzle related to improving the interpretation and reporting is harmonized and routine data sharing and data exchange. Often, this might be crucial already in the report preparation stage, not only as a part of post-reporting. In Europe, many laboratories are not yet sharing data, which could be due to the additional burden of work and/or because of institutional and country policies. There are several intiatives and efforts that set out to improve this, some of which will be presented during this WS.

Christa Lese Martin: “Genomic Variant Discrepancy Resolution: ClinGen’s Efforts to Improve the Quality of Genomic Testing”

(Christa Lese Martin , PhD, FACMG, DABMGG, Professor and Director Geisinger Autism & Developmental Medicine Institute)

Organisers: Erin Haskell, UK

Room: Yellow 1+2

The Ensembl genome browser (www.ensembl.org) provides visual representations and analyses of integrated genomic data, including genes, variants, comparative genomics and gene regulation, for over 100 species. This workshop will introduce participants to a typical workflow for exploring genomic data in Ensembl that can be reused and adapted by both wet-lab scientists and clinicians alike. A brief introduction to Ensembl will be followed by hands-on demonstrations and exercises:

Workshop programme:

15:00 – Introduction to Ensembl and the Variant Effect Predictor (VEP)

15:15 – Demonstration of using the VEP webtool

15:35 – Hands on experimentation: Using Ensembl tools to identify variants of interest from a genetic screen.

15:55 – Wrap-up and take-home messages

Workshop materials, including presentation slides, screenshots from the hands-on demonstration, as well as exercises and solutions will be made available before and during the workshop. They will also remain permanently online for participants to access through our training portal: https://training.ensembl.org.

Organisers: Martina Cornel, NL, Heidi C. Howard, SE

Room: Amber 7+8

THEME: Somatic gene editing

Can rare diseases be treated with autologous stem cells that have been edited? CRISPR/Cas9 has renewed the discussion on gene editing. Will it soon be ready for the clinic? It has been described as cheap and efficient, but for whom? If genome editing-based therapies enter the market, will it be available to those who need it most? Many believe 2018 will be the year of CRISPR in human clinical trials, but the year began with caution, as many people may already be immune to it. How may somatic gene editing change the face of medicine? What is the current state of the science? What challenges presently exist? We will discuss the expectations, hopes and perspective of different stakeholders: scientists developing clinical applications, patients and regulators.

 Presentations:

Kirmo Wartiovaara: Treatment of rare diseases using somatic gene editing: the current status.

Daniel Lim: Legal/regulatory aspects: What is needed to launch genome editing in the clinic?

Vence L. Bonham:  Gene-Editing Clinical Trials: What The Sickle Cell Disease Community Thinks

Heidi Howard: The role of genetic health care professionals: will clinical geneticists move to treatment?

Panel discussion

Chair: Malte Spielmann, Alessandra Renieri
Room: Gold Room

S13.1 High-resolution interrogation of functional elements in the noncoding genome

Neville Sanjana;
New York, NY, United States

S13.2 Reducing off-targets in CRISPR/Cas9 genome editing

Anna Cereseto;
Trento, Italy

S13.3 Gene Therapy for Preventing Heritable Diseases

Shoukhrat Mitalipov;
Portland, OR, United States

Chair: Thierry Voet, Silvia Russo
Room: Auditorium

S14.1 Single-cell sequencing to understand the biology of cellular heterogeneity in health and disease

Stephen Quake;
Stanford, CA, United States

S14.2 Dissecting the spatiotemporal subcellular distribution of the human proteome

Emma Lundberg;
Stockholm, Sweden

S14.3 Evolutionary selection of oncogenic mutant clones in normal epithelia

Philip Jones;
Hinxton, United Kingdom

S15.1 Compensatory changes genome-wide

Shamil Sunyaev;
Cambridge, MA, United States

S15.2 Non-coding repeat insertion in human disease

Isabel Silveira;
Porto, Portugal

S15.3 Deep learning approaches to denoise, impute, integrate and decode functional genomic data

Speaker to be announced;

Chair: Carla Oliveira, Andrea Riccio
Room: Yellow 1+2

S16.1 Establishing the epigenome during human development: New insights of chromatin states and regulatory networks in pluripotent stem cells

Peter Rugg-Gunn;
Cambridge, United Kingdom

S16.2 Epigenetics, aging and age-related disorders

Mario Fraga;
Oviedo, Spain

S16.3 Epigenetic and epitranscriptomic regulation of meiosis and the preimplantation embryo

Arne Klungland;
Oslo, Norway

Chair: Domenico Coviello
Room: Brown 3

E12.1 Undiagnosed Disease Program at NIH and the Undiagnosed Disease Network

William A. Gahl;
Bethesda, MD, United States

E12.2 A User Guide to Matchmaking

Helen Firth;
Cambridge, United Kingdom

Chair: Enza Maria Valente
Room: Blue 1+2

E13.1 Defects of the corpus callosum

Christel Depienne;
Paris, France

E13.2 Defects of the cerebellum

William Dobyns;
Seattle, WA, United States