Sunday, June 13

Chairs:   tba
Room:    A6+A7

C08.1 Project Baby Bear: The first state-funded quality improvement project of rapid Whole Genome Sequencing in neonatal and pediatric intensive care units in the USA

Katarzyna A. Ellsworth, S. Caylor, W. Benson, C. Ashburner, J. Carmichael, E. Cham, S. Chowdhury, J. Cleary, A. D’Harlingue, L. Farnaes, J. Hunt, C. Hobbs, K. Houtchens, P. Joe, J. Knight, A. Kochhar, M. Joseph, J. Limon, M. Martin, S. Nahas, K.A. Rauen, A. Schwarz, S.P. Shankar, R. Spicer, M. Rojas, O. Vargas-Shiraishi, K. Wigby, N. Zadeh, S. Kingsmore, D. Dimmock;
San Diego, United States

C08.2 Integration of genome sequencing into health care – experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities

Anna Lindstrand, H. Stranneheim, K. Lagerstedt-Robinson, M. Kvarnung, N. Lesko, D. Nilsson, B. Anderlid, H. Arnell, C. Backman Johansson, M. Barbaro, E. Björck, H. Bruhn, J. Eisfeldt, M. Engvall, C. Freyer, G. Grigelioniene, P. Gustavsson, A. Hammarsjö, M. Hellström-Pigg, A. Jemt, M. Laaksonen, S. Lind Enoksson, M. Magnusson, H. Malmgren, K. Naess, M. Nordenskjöld, M. Oscarson, M. Pettersson, C. Rasi, A. Rosenbaum, E. Sahlin, T. Stödberg, B. Tesi, E. Tham, H. Thonberg, U. von Döbeln, S. Vonlanthen, A. Wikström, J. Wincent, O. Winqvist, A. Wredenberg, S. Ygberg, R.H. Zetterström, P. Marits, M. Johansson-Soller, M. Johansson Soller, A. Nordgren, V. Wirta, A. Wedell;
Stockholm, Sweden

C08.3 Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Timothy M. Freeman*, Genomics England Research Consortium, D. Wang, J. Harris;
Sheffield, United Kingdom

C08.4

Systematic analysis of short tandem repeats in 38,256 exomes provides additional diagnostic yield

Bart P.G.H. van der Sanden*, M. de Groot, J. Corominas, M. Pennings, R.P.P. Meijer, L.E.L.M. Vissers, E. Kamsteeg, C. Gilissen;
Nijmegen, Netherlands

C08.5 A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung, N.B. Tan, T.Y. Tan, Z. Stark, N. Brown, M.J. Hunter, M. Delatycki, C. Stutterd, R. Savarirayan, G. McGillivray, R. Stapleton, S. Kumble, L. Downie, M. Regan, S. Lunke, B. Chong, D. Phelan, G. Brett, A. Jarmolowicz, Y. Prawer, G. Valente, Y. Samarinsky, M. Martin, C. McEwan, I. Goranitis, C. Gaff, S.M. White;
Parkville, Australia

C08.6 The impact of the 100,000 Genomes Project on rare disease in national healthcare

Damian Smedley, S. Abbs, G. Arno, E. Baple, M. Barnes, P. Beales, M. Bitner-Glindzicz, G. Black, P. Brennan, G. Chan, P. Chinnery, V. Cipriani, S. Ellard, J. Ellingford, P. Elliott, H. Firth, F. Flintner, K. Ibanez Garikano, H. Houlden, M. Irving, J. Jacobsen, E. McDonagh, D. McMullan, L. Moutsianas, W. Newman, W.H. Ouwehand, T. Ratnaike, A. Rueda Martin, C. Penkett, F. Raymond, J. Sayer, R. Scott, K. Smith, H. Stark, K. Stirrups, J. Taylor, E. Thomas, A. Tucci, J. Vandrovcova, L. Vestito, A. Webster, W. Wei, M. Wielscher, H. Williams, A. Wilkie, C. Wright, A. Rendon, M. Caulfield, ,. NIHR BioResource, ,. Genomics England Research Consortium;
London, United Kingdom

Chairs:  tba
Room:   A8

C09.1 The Australian Genomic Health Alliance Mitochondrial Flagship – A national approach to genomic diagnostics

David Thorburn, N. Baker, S. Balasubramaniam, D. Bratkovic, D. Coman, A. Compton, M. Delatycki, C. Ellaway, M. Fahey, J. Fletcher, A. Frazier, R. Ghaoui, H. Goel, D. Hock, M. Kava, N. Lake, P. Lamont, J. Lee, J. Panetta, L. Phillips, R. Rius, M. Ryan, N. Smith, D. Stroud, M. Tchan, M. Walsh, M. Wallis, A. Welch, C. Wools, J. Christodoulou;
Melbourne, Australia

C09.2 High resolution respirometric analysis of a Barth Syndrome disease model

Gregor Oemer*, K. Lackner, J. Koch, E.R. Werner, C. Doerrier, G. Krumschnabel, G. Leman, S. Dubrac, R. Houtkooper, J. Zschocke, M.A. Keller;
Innsbruck, Austria

C09.3 Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.

A.E. Frazier, Alison G. Compton, Y. Kishita, D.H. Hock, A.E. Welch, S.S.C. Amarasekera, R. Rius, L.E. Formosa, A. Imai-Okazaki, D. Francis, M. Wang, N.J. Lake, S. Tregoning, J.S. Jabbari, A. Lucattini, K.R. Nitta, A. Ohtake, K. Murayama, D.J. Amor, G. McGillivray, F.Y. Wong, M.S. van der Knaap, R.J. Vermeulen, E.J. Wiltshire, J.M. Fletcher, B. Lewis, G. Baynam, C. Ellaway, S. Balasubramaniam, K. Bhattacharya, M.L. Freckmann, R.J. Taft, S. Sadedin, M.J. Cowley, A.E. Minoche, S.E. Calvo, V.K. Mootha, M.T. Ryan, Y. Okazaki, D.A. Stroud, C. Simons, J. Christodoulou, D.R. Thorburn;
Melbourne, Australia

C09.4 Hyperuricemia and gout caused by missense mutation in D-lactate dehydrogenase, revealing novel enzymatic activity

Max Drabkin*, Y. Yogev, L. Zeller, R. Zarivach, R. Zalk, D. Halperin, O. Wormser, E. Gurevich, D. Landau, R. Kadir, Y. Perez, O.S. Birk;
Beer-Sheva, Israel

C09.5 Metabolite set enrichment improves biomarker identification and detection in untargeted metabolic profiling (UMP) data for patients with inborn errors of metabolism

Brechtje Hoegen*, U.F.H. Engelke, K.L.M. Coene, J.E. Hampstead, P. Kulkarni, R.A. Wevers, H.G. Brunner, C. Gilissen;
Nijmegen, Netherlands

C09.6 A genome-wide association study for a proxy non-alcoholic fatty liver phenotype identifies novel loci and trait-relevant candidate genes

M. Vujkovic, S. Ramdas, K. Gawronski, K. Lorenz, M. Serper, D.E. Kaplan, R. Carr, K.M. Lee, S. Saiju Pyarajan, T. Edwards, D. Klarin, Y.V. Sun, D.R. Miller, P.D. Reaven, L.S. Phillips, C.J. O’Donnell, J.B. Meigs, P.W.F. Wilson, R. Vickers-Smith, H.R. Kranzler, A.C. Justice, M. Gaziano, S. Muralidhar, S.L. DuVall, T.L. Assimes, J.S. Lee, P.S. Tsao, D.J. Rader, C.D. Brown, S.M. Damrauer, J.A. Lynch, D. Saleheen, Benjamin F. Voight, K.M. Chang, on behalf of the VA Million Veteran Program;
Philadelphia, United States

Chairs:  tba
Room:   A3

C10.1 Recessive vs dominant GWAS of 82,516 coding variants on electronic health records in a population-wide analysis of 176,899 Finns

Henrike O. Heyne, J. Karjalainen, S.M. Lemmelä, FinnGen, A.S. Havulinna, M. Kurki, A. Palotie, M.J. Daly;
Helsinki, Finland

C10.2 Germline genetic testing following tumor sequencing in cancer patients has a remarkably high yield of clinically important findings that inform patient care

Stephen Lincoln, K. Das, N. Ngo, S. Michalski, S. Yang, D. Pineda, E. Esplin, S. Aradaya, R. Nussbaum;
San Francisco, United States

C10.3 The first genotype-phenotype study on European carriers of CDH1 germline mutations

José García-Peláez*, R. Monteiro, L. Sousa, H. Pinheiro, S. Castedo, L. Garrido, M. Teixeira, G. Michils, V. Bours, R. de Putter, L. Golmard & M. Blanluet, C. Colas, P. Benusiglio, S. Aretz & I. Spier, R. Hüneburg, L. Gieldon, E. Schröck, E. Holinski-Feder & V. Steinke, D. Calistri & G. Tedaldi, G. Ranzani, M. Genuardi, C. Silveira & I. Silva, M. Krajc & A. Blatnik, S. Novakovic, A. Patiño-García, J. Soto, C. Lázaro, G. Capellá, J. Brunet-Vidal, J. Balmaña, E. Domínguez-Garrido, M. Ligtenberg, E. Fewings, R. Fitzgerald, E. Woodward, G. Evans, H. Hanson, K. Lagerstedt-Robinson, S. Bajalica-Lagercrantz, C. Egas, C. Martínez-Bouzas et al., K. Dahan & D. Feret, N. Hoogerbrugge, M. Tischkowitz, C. Oliveira;
Porto, Portugal

C10.4 Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of 5182 cases from long QT syndrome and Brugada syndrome consortia cohorts and gnomAD population controls

Roddy Walsh, N. Lahrouchi, C. Glinge, C. Krijger, D. Skoric-Milosavljevic, N. Whiffin, F. Mazzarotto, J.S. Ware, R. Tadros, International Brugada Syndrome Genetics Consortium, International LQTS Genetics Consortium, C.R. Bezzina;
Amsterdam, Netherlands

C10.5 Genome wide association study based on cardiac magnetic resonance imaging in 23,634 individuals identifies five new loci associated with left atrial enlargement

Gustav Ahlberg*, L. Andreasen, J. Ghouse, S. Haunsoe, J.H. Svendsen, M.S. Olesen;
Copenhagen, Denmark

C10.6 Genetic interactions modulate lipid plasma levels and cellular uptake

Magdalena Zimon;, Y. Huang, A. Trasta, J. Liu, C. Chen, A. Halavatyi, P. Blattmann, B. Klaus, C. Whelan, D. Sexton, S. John, E. Tsai, W. Huber, R. Pepperkok, H. Runz;
Heidelberg, Germany

Chairs:  tba
Room:   A2

C11.1 Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Nadja Ehmke, K. Cusmano-Ozog, R. Koenig, M. Holtgrewe, B. Nur, E. Mihci, H. Babcock, C. Gonzaga-Jauregui, J.D. Overton, J. Xiao, B. Fischer-Zirnsak, C. Huber, U. Kornak, S.H. Elsea, V. Cormier-Daire, C.R. Ferreira;
Berlin, Germany

C11.2 Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

Antonio Vitobello, F. Tran Mau-Them, A.L. Bruel, Y. Duffourd, E. Tisserant, P. Callier, S. Moutton, S. Nambot, D. Lehalle, N. Jean-Marçais, J. Delanne, C. Racine, J. Thevenon, C. Poe, T. Jouan, M. Chevarin, M. Willems, C. Coubes, D. Geneviève, N. Houcinat, A. Masurel-Paulet, A. Mosca-Boidron, A. Sorlin, B. Isidor, S. Heide, A. Afenjar, D. Rodriguez, C. Mignot, D. Heron, M. Vincent, P. Charles, S. Odent, C. Dubourg, A. Faudet, B. Keren, B. Cogné, A. Boland, R. Olaso, C. Philippe, J.F. Deleuze, L. Faivre, C. Thauvin-Robinet;
Dijon, France

C11.3 Characterization and treatment of overactive K_ATP channels associated with Cantú syndrome in zebrafish

Helen I. Roessler*, S.S. Singareddy, C. McClenaghan, S. Savelberg, F. Tessadori, J. Bakkers, R. Tyron, C.G. Nichols, G. van Haaften;
Utrecht, Netherlands

C11.4 Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger*, F. Kortüm, G.C. Korenke, M. Alawi, R. Santer, M. Woidy, D. Buhas, S. Fox, D. McKnight, M. Alfadhel, B.D. Webb, E.G. Coci, R. Abou Jamra, A. Finck, M. Siekmeyer, S. Biskup, C. Heller, E.M. Maier, P. Javaher-Haghighi, M.F. Bedeschi, P.F. Ajmone, M. Iascone, H. Peeters, K. Ballon, J. Jaeken, A. Rodríguez Alonso, M. Palomares-Bralo, F. Santos-Simarro, M.E.C. Meuwissen, D. Beysen, R. Kooy, H. Houlden, D. Murphy, M. Doosti, E.G. Karimiani, M. Mojarrad, R. Maroofian, B.D. Gelb, I. Kurth, M. Hempel, K. Kutsche;
Hamburg, Germany

C11.5 C’-terminal lacking MN1 variants gain the function leading craniofacial and brain abnormalities in human

Noriko Miyake, H. Takahashi, K. Nakamura, B. Isidor, Y. Hiraki, Y. Kimura, S. Tomizawa, N. Matsumoto;
Yokohama, Japan

C11.6 A novel Bannayan-Riley-Ruvalcaba (BRRS)/CLOVES syndrome model in Xenopus tropicalis, by CRISPR/Cas9

Dionysia Dimitrakopoulou, S. Demuynck, K. Vleminckx;
Ghent, Belgium

Chairs:  tba
Room:   A1

C12.1 Polygenic background of psychotic disorders and genetic determinants of disease severity

Ari V. Ahola-Olli, Z. Misiewicz, N. Mars, M. Lähteenvuo, B. Neale, T. Männynsalo, E. Isometsä, A. Wegelius, J. Hietala, W. Haaki, O. Kampman, J. Veijola, J. Tiihonen, T. Kieseppä, J. Suvisaari, S. Hyman, M. Daly, A. Palotie;
Cambridge, United States

C12.2 Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

M. Amar, A. Pramod, V. Munive Herrera, N. Yu, L.R. Qiu, P. Moran-Losada, P. Zhang, C.A. Trujillo, J. Ellegood, J. Urresti, K. Chau, J. Diedrich, J. Chen, J. Gutierrez, J. Sebat, D. Ramanathan, J.P. Lerch, J.R. Yates III, A.R. Muotri, Lilia M. Iakoucheva;
La Jolla, United States

C12.3 Tissue-specific transcriptional and functional signatures in reciprocal genomic disorders : Insights from integrated mouse and human neuronal models

Rachita Yadav*, D. JC Tai, J. Wang, T. Aneichyk, S. Erdin, B. B Currall, K. O’Keefe, A. Stortchevoi, U. Rudolph, R. H. Perlis, J. F Gusella, M. E Talkowski;
Boston, United States

C12.4 Autism Comorbidities: Role of CHD8 during the Development of the Enteric Nervous System

Gaëlle L. Hayot*, C. Weber, C. Golzio;
Illkirch-Graffenstaden, France

C12.5 A human single-cell atlas of the Substantia nigra reveals novel cell-specific pathways associated with the genetic risk of Parkinson’s disease and neuropsychiatric disorders.

D. Agarwal, C. Sandor, V. Volpato, T. Caffrey, J. Monzon-Sandoval, R. Bowden, J. Alegre-Abarrategui, R. Wade-Martins, Caleb Webber;
Cardiff, United Kingdom

C12.6 Clinical and molecular complexity of X-linked clustering epilepsy, a disorder of cellular mosaics

Jozef Gecz, K. Kolc, L. Sadleir, C. Depienne, C. Marini, I.E. Scheffer, R.S. Moller, M. Trivisano, N. Specchio, R. Kumar, D. Pham, R. Roberts;
Adelaide, Australia

Chairs:  tba
Room:   A5

C13.1 Landscape of cohesin-mediated chromatin loops in the human genome

Fabian Grubert, R. Srivas, D. Spacek, M. Kasowski, M. Ruiz-Velasco, N. Sinnott-Armstrong, P. Greenside, A. Narasimha, Q. Liu, B. Geller, A. Sanghi, M. Kulik, S. Sa, M. Rabinovitch, A. Kundaje, S. Dalton, J. Zaugg, M. Snyder;
Stanford, United States

C13.2 Analysis of chromatin looping at joint endometrial-ovarian cancer risk loci to identify candidate target genes

Dylan Glubb, I. Jeong, A. Spurdle, T. O’Mara;
Brisbane, Australia

C13.3 When the silent genome gets loud: transcription of repeated genomic elements at the single-cell resolution in K27M-mutated high-grade gliomas

Marie Coutelier*, V. Lisi, S. Hébert, D. Faury, B. Krug, N. De Jay, N. Jabado, C.L. Kleinman;
Montreal, Canada

C13.4 CDH1 regulatory noncoding elements: a hidden master for tissue-specific E-cadherin expression

Celina São José*, A.R. Monteiro, A. Qamra, R. Acuna-Hidalgo, P. Tan, S. Mundlos, C. Oliveira;
Porto, Portugal

C13.5 Local gene co-expression: molecular characterisation, tissue specificity and its genetic control

Diogo Ribeiro*, A. Ramisch, E. Dermitzakis, O. Delaneau;
Lausanne, Switzerland

C13.6 Structural variants in HDAC9 that disrupt TWIST1 transcriptional regulation but not HDAC9 protein function are associated with craniofacial and limb malformations

Ramon Y. Birnbaum, N. Hirsch;
Beer-Sheva, Israel

Chairs:   tba
Room:    A4

C14.1 Implication of FOXD2 in autosomal recessive syndromic CAKUT

Korbinian M. Riedhammer, M. Nguyen, B. Alhaddad, S.J. Arnold, G.J. Kim, U. Heemann, M. Schmidts, J. Hoefele;
Munich, Germany

C14.2 Heterozygous DACT1 mutations in patients with renal anomalies and features of Townes-Brocks syndrome

A. Christians, E. Kesdiren, I. Hennies, A.D. Hofmann, M. Trowe, F. Brand, Helge Martens*, I.A. Kindem, Z. Gucev, M. Zirngibl, R. Geffers, T. Seeman, A. Kispert, H. Billing, A. Bjerre, V. Tasic, D. Haffner, J. Dingemann, R.G. Weber;
Hannover, Germany

C14.3 Loss of UNC45A causes microvillus inclusion disease-like by impairing myosin-dependent epithelial morphogenesis

R. Duclaux-Loras, F. Charbit-Henrion, C. Lebreton, O. Nicolle, M. Rabant, C. Guerrera, A. Fabre, L. Faivre, G. Michaux, H. Uligh, F. Ruemmele, N. Cerf-Bensussan, Marianna Parlato;
Paris, France

C14.4 A comprehensive exome study of the genetic architecture of asthma reveals a putative novel patient subgroup defined by filaggrin truncating variants

Sophia R. Cameron-Christie*, H. Olsson, A. Mackay, Q. Wang, M. Hühn, D. Muthas, G. Lassi, J. Lindgren, G. Povysil, D.B. Goldstein, G. Belfield, I. Dillmann, Y. Ohne, S. Cohen, S. Young, A. Platt, S. Petrovski;
Cambridge, United Kingdom

C14.5 Random plasma glucose GWAS in 479,678 individuals: genetic relationships with impaired lung function and intestinal health

Marika A. Kaakinen, L. Jiang, A. Ulrich, L. Zudina, Z. Balkhiyarova, P. Todorov, T.H. Pers, V. Lagou, I. Prokopenko, MAGIC Investigators;
Guildford, United Kingdom

C14.6 A complementary study approach unravels novel players in the pathoetiology of Hirschsprung‘s disease

T. Mederer, Stefanie Schmitteckert, J. Volz, C. Martinez, R. Röth, T. Thumberger, V. Eckstein, J. Scheuerer, C. Thöni, F. Lasitschka, L. Carstensen, P. Günther, S. Holland-Cunz, R. Hofstra, E. Brosens, D. Schriemer, I. Ceccherini, M. Rusmini, J. Tilghman, B. Luzón-Toro, A. Torroglosa, S. Borrego, C. Szeman Tang, M. Garcia-Barcelo, P. Tam, N. Paramasivam, M. Bewerunge-Hudler, C. de la Torre, N. Gretz, G. Rappold, P. Romero, B. Niesler;
Heidelberg, Germany

Chairs:   tba
Room:    Live Stream Area (Exhibition Hall)

More information will follow soon.