09:00 – 10:30 hrs | Plenary Session PL3
Plenary Session PL3 ESHG-ASHG Building Bridges Debate: Ethical and Legal Discussions – Past, Present & Future
Moderators: Joris Veltman, Francesca Forzano, Peter Scacheri
PL3.1 Reflecting on ethics in genetics: The past, present and future
Ruth Chadwick;
Manchester, United Kingdom
PL3.2 Going from perceptions of genetic risk to the balancing of benefits and risks
Mats Hansson;
Uppsala, Sweden
PL3.3 The Evolution of Genetic Counseling: Effectively Meeting Our Clients’ Needs
Barbara B. Biesecker;
Bethesda, United States
PL3.4 From Medical Genetics to Applied Genomics: Implications for Human Geneticists’ Core Goals and Values
Eric Juengst;
Chapel Hill, United States
10:30 – 11:00 hrs | Coffee Break
11:00 – 12:30 hrs | Concurrent Sessions C19 – C23
Concurrent Sessions C19 Diagnostic variant interpretation and quality control
Chair: André Reis, Toril Fagerheim
C19.1 The spectrum of sequence and copy-number variants in 80,000 patients: Implications for test development and validation
Stephen Lincoln, R. Truty, J. Zook, C. Huang, M. Ferber, B. Shirts, R. Garlick, M. Salit, S. Aradhya, R. Nussbaum;
San Francisco, United States
C19.2 ClinGen Sequence Variant Interpretation Work Group recommendations for ACMG-AMP guideline specification
Steven M. Harrison*, H. Rehm, M. Greenblatt, L.G. Biesecker, ClinGen Sequence Variant Interpretation Working Group;
Cambridge, United States
C19.3 ClinGen: The Clinical Genome Resource
Danielle R. Azzariti, E.R. Riggs, J.S. Berg, C.D. Bustamante, K.A.B. Goddard, M.J. Landrum, D.H. Ledbetter, C.L. Martin, S.E. Plon, E.M. Ramos, M.S. Watson, M.S. Williams, H.L. Rehm, on behalf of the Clinical Genome Resource;
Cambridge, United States
C19.4 High-resolution variant filtering empowers clinical interpretation and provides insights into variant penetrance and population-specificity
Nicola Whiffin*, E. Minikel, R. Walsh, A. O’Donnell-Luria, K. Karczewski, A.Y. Ing, P.J.R. Barton, B. Funke, S.A. Cook, D.G. MacArthur, J.S. Ware;
London, United Kingdom
C19.5 External Quality Assessment of Clinical Genetics: from pilot assessment to full EQA scheme
Conny M. van Ravenswaaij-Arts, C. van Asperen, C. Benjamin, L. Garavelli, B. Peterlin, M. Nielsen, T. De Ravel, L. Tranebjaerg, K. Usha, K. Writzl, R. Hastings;
Groningen, Netherlands
C19.6 Assessing clinical consistency among inconsistent variant classifications
Stephen Abbs, D. Moore, F. Khawaja, Z. Deans;
Cambridge, United Kingdom
Concurrent Sessions C20 Molecular syndromology
Chair: Jill Clayton-Smith, Rocio Acuna Hidalgo
C20.1 Mutations in the cadherin-catenin complex in Blepharo-Cheilo-Dontic Syndrome
Anneke Kievit, F. Tessadori, J. Douben, I. Jordens, M. Maurice, A. Hoogeboom, R. Hennekam, S. Nampoothiri, H. Kayserili, M. Castori, M. Whiteford, C. Motter, C. Melver, M. Cunningham, A. Hing, N. Kokitsu-Nakata, S. Vendramini-Pittoli, A. Richieri-Costa, A. Baas, C. Beugem, K. Duran, M. Massink, P. Derksen, W.F.J. van IJcken, L. van Unen, F. Santos-Simarro, P. Lapunzina, V.L. Gil-da Silva Lopes, E. Lustosa-Mendes, M. Krall, A. Slavotinek, V. Martinez-Glez, J. Bakkers, K.L.I. van Gassen, A. de Klein, M.J. van den Boogaard, G. van Haaften;
Rotterdam, Netherlands
C20.2 Heterozygous loss-of-function ACTB mutations result in a novel developmental syndrome
S. Cuvertino, H. Stuart, K.E. Chandler, N.A. Roberts, R. Armstrong, L. Bernardini, S. Bhaskar, B. Callewaert, J. Clayton-Smith, C.H. Davalillo, C. Deshpande, K. Devriendt, M.C. Digilio, A. Dixit, M. Edwards, J.M. Friedman, S. Joss, B. Kerr, A.K. Lampe, R. McGowan, M.D. Medt, J. O’Sullivan, S. Odent, M.J. Parker, C. Pebrel-Richard, F. Petit, Z. Stark, S. Tinschert, P. Vasudevan, O. Villa, &.M. White, F. Zahir, The DDD study, R. Lennon, A.S. Woolf, Siddharth Banka;
Manchester, United Kingdom
C20.3 Variants in the degron motif of AFF3 cause a multi-sytem disorder with skeletal dysplasia and severe neurologic involvement
Norine Voisin*, R.E. Schnur, S. Douzgou, A.J. Tanaka, C.F. Rustad, S.M. Hiatt, E. Del Giudice, A. Mikhaleva, The DDD study, B. Yalcin, D. Donnai, N. Brunetti-Pierri, A. Reymond, W.K. Chung;
Lausanne, Switzerland
C20.4 KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis
Lucie Gueneau, R. Fish, H. Shamseddin, N. Voisin, F. Tran Mau-Them, E. Preiksaitiene, G. Monroe, F. Allias, Q. Ambosaidi, L. Ambrozaityte, L. Cimbalistiene, J. Delafontaine, N. Guex, M. Hashem, W. Kurdi, T. Pippucci, S. Pradervand, B. Roechert, P. Van Hasselt, M. Wiederkehr, C. Wright, DDD Study, I. Xenarios, G. Van Haaften, C. Shaw-Smith, E. Schindewolf, M. Neerman-Arbez, J. Chelly, V. Kucinskas, F. Alkuraya, A. Reymond;
Lausanne, Switzerland
C20.5 Heterozygous BMP2 mutations leading to haploinsufficiency cause a recognisable human syndrome comprising short stature, palatal anomalies, congenital heart disease and skeletal malformations
Tiong Y. Tan, E. Bhoj, K. Strauss, K. Brigatti, E. Puffenberger, D. Li, C.G. Gonzaga-Jauregui, P.J. Simm, B.O. Jones, M. Raabus, L. Miles, M. Ramialison, J. Kaslin, N.L. Baker, P.G. Farlie;
Parkville, Melbourne, Australia
C20.6 Reverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genes
Matthew S. Hestand, B.A. Nowakowska, E. Vergaelen, W. Demaerel, J. Breckpot, D.J. Cutler, T.B. Crowley, M. Armando, N. Philip, G. Repetto, M. Schneider, S. Eliez, K. Devriendt, D.M. McDonald-McGinn, B.E. Morrow, A. Swillen, J.R. Vermeesch, International 22q11.2 Brain Behavior Consortium;
Amsterdam, Netherlands
Concurrent Sessions C21 Cardiovascular disorders
Chair: Julie McGaughran, Cecilia Gunnarsson
C21.1 Inactivation of KLHL24 is associated with hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle
C. Hedberg-Oldfors, A. Abramsson, D.P.S. Osborn, O. Danielsson, A. Fazlinezhad, L. Hübbert, I. Nennesmo, K. Visuttijai, J. Bharj, E.G. Karimiani, E. Petropoulou, A. Shohreim, R.K. Banote, R. Maroofian, M. Edling, M. Taherpour, H. Zetterberg, A. Oldfors, Yalda Jamshidi;
London, United Kingdom
C21.2 Epigallocatechin-3-gallate prevents cardiac hypertrophy in a Williams-Beuren syndrome mouse model
Paula Ortiz-Romero*, G. Aranaz, L.A. Perez-Jurado, V. Campuzano;
Barcelona, Spain
C21.3 Generalized compound heterozygosity analysis highlights associated loci for coronary artery disease in genetic and exome data
M.Loretto Munoz*, M. Munz, D. Gola, L. Zeng, T. Keßler, I.R. König, H. Schunkert, J. Erdmann;
Lübeck, Germany
C21.4 Copy number variants account for at least 2% of non-syndromic cardiomyopathies
Frank Honti*, G. Beaman, M. Edwards, T. Monk, S. Wilkinson, L. Brett, S. Cook, J.S. Ware, W.G. Newman, D. Morris-Rosendahl;
London, United Kingdom
C21.5 A major beneficial effect of angiotensin II receptor blockade for preventing spontaneous aortic rupture in a new mouse model of vascular Ehlers Danlos syndrome
E. Fontaine, J. Faugeroux, I. Loisel-Ferreira, F. Vignol, A. Gianfermi, H. Nematalla, P. Bruneval, J. Hadchouel, E. Messas, Xavier Jeunemaitre;
Paris, France
C21.6 Patterns of co-occurrence of congenital heart defects follows distinct patterns
S.G. Ellesøe, C.T. Workman, P. Bouvagnet, C.A. Loffredo, K.L. McBride, R.B. Hinton, K. van Engelen, E.C. Gertsen, B.J.M. Mulder, A.V. Postma, R.H. Anderson, V.E. Hjortdal, S. Brunak, Lars A. Larsen;
Copenhagen, Denmark
Concurrent Sessions C22 Systems Genetics
Chair: Ellen Heitzer, Ole Johan Borge
C22.1 Four glycaemic trait trans-ethnic genome-wide association meta-analyses using densely imputed genetic data in up to 281,416 non-diabetic individuals
Inga Prokopenko, for the Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Investigators;
London, United Kingdom
C22.2 Expression insights into the human miRNA-mRNA interactome
Olga M. Plotnikova*, M.Y. Skoblov;
Moscow, Russian Federation
C22.3 Deconvolution of whole blood eQTLs into rare immune-subpopulations uncovers key players of immune mediated diseases
Raul Aguirre-Gamboa*, N. de Klein, D.V. Zhernakova, P. Deelen, M.J. Bonder, Z. Borek, Swertz, I. Jonkers, S. Withoff, Joosten, V. Kumar, H.J.P.M. Koenen, M. Netea, C. Wijmenga, L. Franke, Li;
Groningen, Netherlands
C22.4 Adipose cis-eQTL variants at enhancer-promoter interaction circuits regulate obesity genes
D.Z. Pan, K. Garske, A. Ko, Y. Bagat, M. Alvarez, C.K. Raulerson, J. Sinsheimer, K.L. Mohlke, M. Laakso, Paivi Pajukanta;
Los Angeles, United States
C22.5 Trans-eQTL analysis in 25,000 individuals reveals clear differences between diseases in the types and number of causally involved biological pathways
Annique Claringbould*, U. Vōsa, eQTLGen Consortium, T. Esko, L. Franke;
Groningen, Netherlands
C22.6 Men with LOY and cells without the Y chromosome – transcriptomes and functional effects studied in 6000 single cells by RNA sequencing using the 10X Chromium platform
Jonatan Halvardson, M.D. Fernow, H. Davies, C. Rasi, J.P. Dumanski, L.A. Forsberg;
Uppsala, Sweden
Concurrent Sessions C23 Neurogenetics 2
Chair: Jens Michael Hertz, Hans Scheffer
C23.1 Complex cis-interaction is responsible for the craniofacial and neuroanatomical defects of the 4p16.1 copy number variant.
Gaëlle Hayot*, C. Bonnet, N. Katsanis, C. Golzio;
Illkirch-Graffenstaden, France
C23.2 Foxp1 is essential for sex-specific murine neonatal ultrasonic vocalization
Henning Fröhlich, R. Rafiullah, N. Schmitt, S. Abele, G.A. Rappold;
Heidelberg, Germany
C23.3 Dominant mutations in DCC cause isolated agenesis of the corpus callosum with sex specific penetrance
A.P.L. Marsh, D. Heron, T.J. Edwards, A. Quartier, A. Rastetter, C. Nava, S. Heide, B. Keren, C. Mignot, C. Garel, A. Faudet, C. Galea, G. Mcgillivray, S.A. Mandelstam, S. Odent, M. Bahlo, J. Mandel, A. Piton, A. Méneret, E. Roze, M. Moutard, T. Billette, E.H. Sherr, R.J. Leventer, L.J. Richards, P.J. Lockhart, Christel Depienne;
Illkirch, France
C23.4 WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy
Binnaz Yalcin, M. Kannan, C. Wagner, M. Ross, B. Rinaldi, P. Kretz, L. McGillewie, S. Bär, S. Minocha, C. Po, J. Chelly, J. Mandel, R. Borgatti, A. Piton, S. Collins, C. Kinnear, Y. Hérault, S. Friant, B. Loos;
Illkirch, France
C23.5 ATPase-deficient ATAD3A alters mitochondrial dynamics in hereditary spastic paraplegia
Rosa A. Woldegebriel*, H.M. Cooper, Y. Yang, E.A. Ylikallio, R. Khairullin, K. Lin, L. Euro, E. Palin, A. Wolf, R. Trokovic, P. Isohanni, S. Kaakkola, M. Auranen, T. Lönnqvist, S. Wanrooij, H. Tyynismaa;
Helsinki, Finland
C23.6 Mutation of ribosomal RNA-processing protein 7 homolog A (RRP7A) cause autosomal recessive microcephaly with intellectual disability
Muhammad Farooq, L. Lindbæk, N. Krogh, V.S. Nielsen, M. Mönnich, S. Sakthivel, C. Doganli, Y. Mang, A. Fatima, M.S. Hussain, K. Møllgård, H. Eiberg, L. Hansen, K.W. Kjær, H. Nielsen, S.M. Baig, N. Tommerup, S.T. Christensen, L.A. Larsen;
Copenhagen, Denmark
12:30 – 13:30 hrs | Lunch Break
13:30 – 14:15 hrs | Plenary Session PL4
Plenary Session PL4 Mendel Lecture
Chair: Christine Patch, Joris A. Veltman
PL4.1 Reading and Writing Genomes
George Church;
Boston, United States
14:15 – 15:30 hrs | Plenary Session PL5
Plenary Session PL5 ESHG Award Session
Chair: Christine Patch, Joris A. Veltman
PL5.1 X-chromosome structure and epigenetic dynamics during X inactivation
Edith Heard;
Paris, France
15:00 – 15:45 hrs | Plenary Session PL6 Awards Session
Plenary Session PL6 Awards Session
Chair: Christine Patch, Joris A. Veltman
ESHG Education Award
EJHG Awards
ESHG Young Investigator & Poster Awards
Closing Address