08:00 – 10:00 hrs | Educational Session E01
Room: Hall 3
E01.1 A liquid biopsy for infectious disease
Iwijn De Vlaminck;
United States
E01.2 Detection of structural variation and haplotype-aware genome assembly through Strand-Seq
Ahley Sanders;
Germany
E01.3 Sequencing Genome Organization
Magda Bienko;
Sweden
10:00 – 10:30 hrs | Coffee Break, Exhibition, Poster Viewing
10:00 – 11:30 hrs | Corporate Satellites
10:30 – 12:00 hrs | Educational Sessions E02-E04 & Workshops W01-W04
Room: Lomond Auditorium
E02.1 The CANGEN-CANVAR Programme: Delivering better tools for prevention and early detection in hereditary cancer syndromes
Clare Turnbull
United Kingdom
E02.2 Driving hereditary cancer research with the European Reference Network GENTURIS
Nicoline Hoogerbrugge;
The Netherlands
Room: Hall 5
E03.1 What are the different types of uncertainty that patients experience in the clinical genome sequencing?
Paul Han;
United States
E03.2 Uncertainity: The patient experience
Stina Lou;
Denmark
E03.3 Coping with uncertainty of genomic testing in a non-genetic setting
Anthony Wierzbicki;
United Kingdom
Room: Hall 1
E04.1 Genetic basis of imprinting disordes
Thomas Eggermann;
Germany
E04.2 Diagnosis and treatment of imprinting disorders
Karen Temple;
United Kingdom
More information will follow in spring 2021.
More information will follow in spring 2021.
More information will follow in spring 2021.
More information will follow in spring 2021.
12:00 – 14:00 hrs | Lunch Break, Exhibition, Poster Viewing
12:15 – 13:45 hrs | Corporate Satellites
14:00 – 16:00 hrs | Plenary Session PL0-PL1
Chairs: Maurizio Genuardi, Alexandre Reymond
Room: Hall 3
Chairs: Maurizio Genuardi, Alexandre Reymond
Room: Hall 3
PL1.1 Title to be announced
Kári Stefánsson;
Iceland
PL1.2 The COVID-19 host genetics initiative
Andrea Ganna;
The Netherlands
PL1.3 Inborn errors of immunity to SARS-CoV-2
Jean-Laurent Casanova
France
16:00 – 16:30 hrs | Fruit Break, Exhibition, Poster Viewing
16:30 – 18:00 hrs | Plenary Session PL2
Room: Hall 3
The What’s New? Highlight Session is dedicated to the highest scored papers from abstract submission for the ESHG 2021 conference.
The deadline for abstract submission is February 12, 2021. Do not miss the opportunity to be able to present your work in this exclusive slot!
Selected presenters will be informed after all abstracts have been reviewed and confirmed by the Scientific Programme Committee mid-March 2021.
18:00 – 18:30 hrs | Coffee Break, Exhibition, Poster Viewing
18:30 – 20:00 hrs | Concurrent Sessions C01-C07 from submitted abstracts
Chairs: tba
Room: Hall B
C01.1 Consistency of carrier screening guidelines across seven populations and 408,00 individuals
Aishwarya Arjunan, R. Ben-Shachar, R. Torres, K. Johansen Taber, K.E. Kaseniit, D. Muzzey;
South San Francisco, United States
C01.2 Expanded carrier screening of recessive disorders (CarrierTest) in clinical practice
Jan Diblík, M. Bittóová, F. Lhota, F. Zembol, L. Dohnalová, Z. Vilímová, I. Soldátová, M. Hrabíková, I. Pavlechová, M. Koudová, D. Stejskal;
Praha, Czech Republic
C01.3 Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders
Manon S. Oud, B.J. Houston, L. Volozonoka, F.K. Mastrorosa, B. Alobaidi, P.F. de Vries, G. Astuti, L. Ramos, R. Burke, R.I. McLachlan, M.K. O’Bryan, J.A. Veltman, H.E. Chemes, H. Sheth;
Nijmegen, Netherlands
C01.4 Identification of novel causes for male infertility: loss-of-function variants in MSH4 and MSH5
Margot J. Wyrwoll*, C. Friedrich, E. Kaminsky, C. Krallmann, S. Kliesch, F. Tüttelmann;
Münster, Germany
C01.5 Non-invasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
Huiwen Che*, D. Villela, E. Dimitriadou, C. Melotte, N. Brison, M. Neofytou, K. Van Den Bogaert, O. Tsuiko, K. Devriendt, E. Legius, M. Zamani Esteki, T. Voet, J.R. Vermeesch;
Leuven, Belgium
C01.6 Trio exome/whole exome sequencing in prenatal diagnosis: Experiences from >400 cases shows a high diagnostic yield and a great benefit for pregnancy management and genetic counselling.
Heinz Gabriel, C. Wilhelm, F. Battke, E. Goldmann, C. Bus, S. Biskup;
Tuebingen, Germany
Chairs: tba
Room: A6+A7
C02.1 SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neurodevelopmental disorders
A. Fliedner, P. Kirchner, K.E. Agre, I. de Graaf-van de Laar, M. Dutra Clarke, L. Davis-Keppen, A.B. Ekici, A. Gregor, N. Lippa, K. McWalter, G. Mirzaa, G. Noh, L. Ohden, D.A. Scott, S. Lalani, R. Straussberg, R. Cohen, A. Wiesener, Christiane Zweier;
Erlangen, Germany
C02.2 Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder
Joery den Hoed*, E. de Boer, N. Voisin, N. Guex, L. Snijders Blok, J. Chrast, The DDD study, L. Manwaring, M. Willing, A. Waheeb, M. Osmond, K. McWalter, A. Vitobello, F. Demurger, A. Lavillaureix, S. Odent, B. Mazel, L. Faivre, I. Thiffault, C. Schwager, S.M. Amudhavalli, J.A. Rosenfeld, K. Radtke, E. Preiksaitiene, E. Ranza, C. Depienne, A. Kuechler, S. Mohammed, Y. Hamzavi Abedi, V.R. Bonagura, B. Zuccarelli, B. Horist, V. Krishnamurthy, A.A. Kattentidt-Mouravieva, L. Granger, A. Petersen, K.L. Jones, M. Sinnema, A.P.A. Stegmann, R. Newbury-Ecob, U. Kini, D.F. Newbury, C. Gilissen, H. Brunner, T. Kleefstra, A. Reymond, L.E.L.M. Vissers, S.E. Fisher;
Nijmegen, Netherlands
C02.3 De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal part and cause a severe form of neurodevelopmental disorder
Francesca Mattioli*, G. Hayot, N. Drouot, B. Isidor, J. Courraud, M. Hinckelmann, F. Tran Mau-Them, C. Sellier, A. Goldman, A. Telegrafi, A. Boughton, C. Gamble, S. Moutton, A. Quartier, N. Jean, P. Van Ness, S. Grotto, S. Nambot, G. Douglas, Y. Si, J. Chelly, Z. Shad, E. Kaplan, R. Dineen, C. Golzio, N. Charlet, J. Mandel, A. Piton;
Illkirch, France
C02.4 Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures
Dmitrijs Rots*, E. Chater-Diehl, A.J.M. Dingemans, M. Siu, C. Cytrynbaum, N. Hoang, S. Walker, S. Scherer, R. Pfundt, T. Rinne, T. Gardeitchik, B.B.A. de Vries, C.T.R.M. Stumpel, S.J.C. Stevens, J. van Harssel, D.G.M. Bosch, K.L.I. van Gassen, E. van Binsbergen, C.M. de Geus, M. Hempel, D. Lessel, J. Denecke, A. Slavotinek, J. Strober, L.B. Ousager, M. Larsen, L. Schultz-Rogers, E. Morava, E.W. Klee, I.R. Berry, J. Campbell, K. Lindstrom, A.M. Neumeyer, J.A. Radley, C. Phornphutkul, W.G. Wilson, B. Schmidt, S. Meyn, K. Ounap, K. Reinson, S. Pajusalu, C. Ruivenkamp, A. van Haeringen, R. Cuperus, GeneDx inc., L.E.L.M. Vissers, H.G. Brunner, T. Kleefstra, D.A. Koolen, R. Weksberg;
Nijmegen, Netherlands
C02.5 Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders
K. Mohajeri, Eva D’haene*, R. Yadav, H. Gu, B. Menten, A. Presser Aiden, C. Lowther, S. Erdin, E. Lieberman Aiden, J. Gusella, S. Vergult, M. Talkowski;
Gent, Belgium
C02.6 Crispr-Cas9-engineered Pigv341E mouse model mirrors the human phenotype, reveals a hippocampal synaptic defect and suggests a major role of impaired Abl1/Ephrin signaling pathway in GPI anchor deficiency
Miguel Rodríguez de los Santos, M. Rivalan, F.S. David, A. Knaus, A. Stumpf, L. Moreno Velasquez, A. Voigt, D. Mattei, M. Long, L. Wittler, B. Timmermann, D. Horn, S. Mundlos, U. Kornak, D. Schmitz, Y. Winter, P.M. Krawitz;
Berlin, Germany
Chairs: tba
Room: A8
C03.1 Reconciling GWAS and Mendelian genetics through core-gene identification
Olivier B. Bakker, A. Claringbould, H. Westra, S. Mulcahy Symmons, M. Swertz, I.H. Jonkers, L. Franke, P. Deelen;
Groningen, Netherlands
C03.2 Improved de novo mutation detection through deep learning
Karolis Šablauskas*, W. Steyaert, D. Rots, R. Pfundt, H.G. Yntema, H.G. Brunner, A. Hoischen, L.E.L.M. Vissers, C. Gilissen;
Nijmegen, Netherlands
C03.3 GestaltMatch: breaking the limits of rare Mendelian disorder diagnosis by matching patients with next-generation phenotyping
Tzung-Chien Hsieh*, A. Bar-Haim, G. Nadav, T.J. Pantel, N. Fleischer, P. Krawitz;
Bonn, Germany
C03.4 Untranslated region (UTR) variant analysis across 71,702 genomes to build a framework for variant interpretation
Sander Pajusalu*, N.J. Lake, M. Lek;
New Haven, United States
C03.5 Hotspot detection in homologous protein domains using de novo mutations from 31,058 patients identify candidate developmental disorder genes
Laurens van de Wiel*, H. Venselaar, L.E.L.M. Vissers, G. Vriend, J.A. Veltman, C. Gilissen;
Nijmegen, Netherlands
C03.6 Cell type specific genetic regulation of gene expression across human tissues
Sarah Kim-Hellmuth, F. Aguet, M. Oliva, S. Kasela, M. Muñoz-Aguirre, V. Wucher, GTEx Consortium, R. Guigó, B.E. Stranger, K.G. Ardlie, T. Lappalainen;
Munich, Germany
Chairs: tba
Room: A3
C04.1 Unique somatic mutation lanscape enhances tumor predisposition in the kidney proximal tubule
Irene Franco, H.T. Helgadottir, A. Moggio, M. Larsson, P. Vrtacnik, A. Johansson, N. Norgren, P. Lundin, D. Mas-Ponte, J. Nordström, T. Lundgren, P. Stenvinkel, L. Wennberg, F. Supek, M. Eriksson;
HUDDINGE, Sweden
C04.2 TFEB constitutive activation underlies polycystic kidney and renal carcinoma in Birt-Hogg-Dube’ syndrome
Chiara Di Malta, G. Napolitano, A. Esposito, M. Matarese, V. Benedetti, A. Zampelli, D. Siciliano, A. Venuta, M. Cesana, C. Vilardo, E. Nusco, J. Monfregola, A. Ballabio;
Pozzuoli (NA), Italy
C04.3 Oncogenic transcription factors are over-represented in mutated active DNA binding sites in neuroblastoma and Wilms tumor
Vito A. Lasorsa*, F. Cimmino, M. Avitabile, S. Cantalupo, A. Montella, B. De Angelis, M. Morini, C. de Torres, A. Castellano, F. Locatelli, A. Iolascon, M. Capasso;
Napoli, Italy
C04.4 Characterization of circRNA profiles in childhood acute lymphoblastic leukemia
Angela Gutierrez-Camino*, M. Caron, C. Richer, E. Lopez-Lopez, I. Martin-Guerrero, B. Frutos, P. St-Onge, A. Bataille, D. Sinnett;
Leioa, Spain
C04.5 Patient-derived PDAC organoids recapitulate tumor cell state heterogeneity and functional hierarchy in vitro
Teresa G. Krieger*, J. Jabs, S. LeBlanc, A. Giri, O. Strobel, R. Eils, C. Conrad;
Berlin, Germany
C04.6 Integrative analyses of 100 genomes of Basal Cell Carcinoma in the context of transcription and methylation profiles
Sergey I. Nikolaev, A. Yurchenko, A. Sartori, I. Padioleau, F. Rajabi, L. Parmentier, D. Salomon, E. Dermitzakis, H. Ongen;
VILLEJUIF, France
Chairs: tba
Room: A2
C05.1 Investigating the role of KMT2C in heart development
Shona C. Borland, G. Tenin, R. Monaghan, S. Williams, M. Zi, C. Wilson, S. Prehar, E. Cartwright, S. Abraham, B. Keavney;
Manchester, United Kingdom
C05.2 Mutations in KDR, encoding for vascular endothelial growth factor receptor 2, contribute to Tetralogy of Fallot
Doris Skoric-Milosavljevic*, N. Lahrouchi, F. Bosada, G. Dombrowsky, F. Tjong, I. El Bouchikhi, M. Hababa, S. Williams, R. Walsh, L. Beekman, A. Ilgun, R. Lesurf, E. Audain, J. Breckpot, B.J. Mulder, S. Clur, S. Mital, B. Keavney, M. Hitz, V. Christoffels, E.M. Lodder, A.V. Postma, C.R. Bezzina;
Amsterdam, Netherlands
C05.3 Bi-allelic loss-of-function mutations in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Najim Lahrouchi*, A. Postma, C.M. Salazar, D. De Laughter, F. Tjong, L. Piherová, F.Z. Bowling, D. Zimmerman, E.M. Lodder, A. Ta-Shma, Z. Perles, L. Beekman, A. Ilgun, Q. Gunst, M. Hababa, D. Škorić‐Milosavljević, P. de Knijff, R. de Leeuw, J.Y. Robinson, S.C. Burn, H. Mustafa, M. Ambrose, T. Moss, J. Jacober, D.M. Niyazov, A. Rousounides, A. Aristidou-Kallika, G. Tanteles, M. Magliozzi, F.C. Radio, G.W.E. van Santen, J.C. Herkert, O. Elpeleg, M. van den Hoff, B. Mulder, M.V. Airola, S. Kmoch, J.V. Barnett, S. Clur, M.A. Frohman, C.R. Bezzina;
Amsterdam, Netherlands
C05.4 Pathogenic variants in THSD4, encoding the ADAMTS-Like 6 protein, predispose to inherited thoracic aortic aneurysm
Sandy Elbitar*, M. Renard, P. Arnaud, N. Hanna, M. Jacob, D. Guo, K. Tsutsui, M. Gross, K. Kessler, L. Tosolini, V. Dattilo, S. Dupont, J. Jonquet, M. Langeois, L. Benarroch, M. Aubart, Y. Ghaleb, Y. Abou Khalil, M. Varret, P. El Khoury, B. Ho-Tin-Noé, Y. Alembik, S. Gaertner, B. Isidor, L. Gouya, O. Milleron, K. Sekiguchi, D. Milewicz, J. De Backer, C. Le Goff, J. Michel, G. Jondeau, L.Y. Sakai, C. Boileau, M. Abifadel;
Paris, France
C05.5 Functional characterization of rare SHOX2 variants identified in sinus node dysfunction and atrial fibrillation
Sandra Hoffmann, C. Paone, S.A. Sumer, S. Diebold, B. Weiss, R. Roeth, S. Clauss, I. Klier, S. Kääb, A. Schulz, P.S. Wild, A. Ghrib, T. Zeller, R.B. Schnabel, S. Just, G.A. Rappold;
Heidelberg, Germany
C05.6 A novel microRNA in human induced pluripotent stem cell-derived cardiomyocytes regulates hypertrophy and is a biomarker of left ventricular hypertrophy
A. Turner, P. Aggarwal, A. Matter, C. Gu, D.K. Arnett, Ulrich Broeckel;
Milwaukee, United States
Chairs: tba
Room: A1
C06.1 Structural variants implicate ectopic enhancer-gene contacts in Retinitis Pigmentosa
Alessia Fiorentino, S.E. de Bruijn, D. Ottaviani, S. Fanucchi, U.S. Melo, J.C. Serrano, T. Mulders, M. Georgiou, C. Rivolta, N. Pontikos, G. Arno, L. Roberts, J. Greenberg, S. Albert, C. Gilissen, M. Aben, G. Rebello, S. Mead, L. Raymond, J. Corominas, C.E.L. Smith, H. Kremer, S. Downes, G.C. Black, A.R. Webster, C.F. Inglehearn, I. van den Born, R. Koenekoop, M. Michaelides, R.S. Ramesar, C.B. Hoyng, S. Mundlos, M.M. Mhlanga, F.P.M. Cremers, M.E. Cheetham, S. Roosing, A.J. Hardcastle;
London, United Kingdom
C06.2 Whole Exome Sequencing, Molecular Assays, Immunohistology and Animal Models associate USP48 to Hereditary Hearing Loss
Sissy Bassani*, A. Morgan, M. Cocca, N. Voisin, J. Chrast, S. Pradervand, N. Guex, B. Delprat, M. Rossel, H. Locher, E. Van Beelen, M. Tangui, P. Gasparini, G. Girotto, A. Reymond;
Trieste, Italy
C06.3 Ablation of the congenital microcoria (MCOR) critical region on 13q32.1 activates common-type glaucoma signaling pathways challenging a developmental etiology of MCOR-associated glaucoma.
Clementine Angee*, B. Nedelec, P. David, S. Gerber, S. Crippa, B. Passet, J. Vilotte, N. Chassaing, J. Kaplan, C. Costic, P. Calvas, J. Rozet, L. Fares-Taie;
Paris, France
C06.4 Mouse and human studies support a role for CAPN15 variants in cataract and microphthalmia
C. Zha, C.A. Farah, Richard J. Holt, F. Ceroni, L. AlAbdi, A.O. Khan, R. Helaby, F.S. Alkuray, A. Kraus, N.K. Ragge, W.S. Sossin;
Oxford, United Kingdom
C06.5 DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration
Anjali V. Vig, J.A. Poulter, D. Ottaviani, E. Tavares, K. Toropova, A.M. Tracewska, A. Mollica, J. Kang, O. Kehelwathugoda, T. Paton, J.T. Maynes, G. Wheway, G. Arno, K.N. Khan, M. McKibbin, C. Toomes, M. Ali, M. Di Scipio, S. Li, J. Ellingford, G. Black, A. Webster, M. Rydzanicz, P. Stawiński, R. Płoski, A. Vincent, M.E. Cheetham, C.F. Inglehearn, A. Roberts, E. Heon;
Toronto, Canada
C06.6 Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
A. Kröll-Hermi, F. Ebstein, C. Stoetzel, V. Geoffroy, E. Schaefer, S. Scheidecker, S. Bär, M. Takamiya, K. Kawakami, B. Zieba, F. Studer, V. Pelletier, C. Speeg-Schatz, V. Laugel, D. Lipsker, F. Sandron, S. McGinn, A. Boland, J. Deleuze, L. Kuhn, J. Chicher, P. Hammann, S. Friant, C. Etard, E. Krüger, Jean Muller, U. Strähle, H. Dollfus;
Strasbourg, France
Chairs: tba
Room: A4
C07.1 Implementing a hybrid clinical/research model in genomic medicine: post 100,000 Genomes Project
Christine Patch, E. Thomas, F. Maleady Crowe, R. Wier, T. Fowler, M. Bishop, A. Pichini;
London, United Kingdom
C07.2 A tailored approach towards informing relatives at risk of inherited cardiac diseases: preliminary results of a randomized controlled trial
Lieke M. Van den Heuvel*, Y.M. Hoedemaekers, A.F. Baas, M.J.H. Baars, E.M.A. Smets, J.P. van Tintelen, I. Christiaans;
Amsterdam, Netherlands
C07.3 Measuring the burden of direct-to-consumer genetic testing on clinical genetics services
Jane M. Tiller*, M. Millward, M. Bogwitz, H. Kincaid, S. Taylor, A. Trainer, P. Lacaze;
Melbourne, Australia
C07.4 Critical components of informed consent for genetic testing: Results of a Delphi Consensus process
Kelly E. Ormond, M. Borensztein, A.H. Buchanan, W. Faucett, M.L.G. Hallquist, H.L. Peay, M.E. Smith, E. Tricou, W.R. Uhlmann, K.E. Wain, C.R. Coughlin II;
Stanford, United States
C07.5 Public attitudes towards human germline gene editing: a baseline survey in the Netherlands
Diewertje Houtman*, M. Polak, B. Vijlbrief, P. Verheggen, R. Hofstra, S. Riedijk;
Rotterdam, Netherlands
C07.6 Does Genetic Counseling lead to effective coping with genetic risk information?
Barbara B. Biesecker, M.T. Cho;
Bethesda, United States
20:00 – 22:00 hrs | ESHG Networking Mixer
*An asterisk in the author block indicates that the presenter is a Young Investigator and candidate for one of the Y.I. Awards.