Saturday, June 12 – Virtual Conference

Moderators:   Alexandre Reymond, Joris Veltman

PL1.1  Title to be announced

Kári Stefánsson;
Iceland

PL1.2  The COVID-19 host genetics initiative

Andrea Ganna;
The Netherlands

PL1.3  Genetic and immunological causes of life-threatening COVID-19

Jean-Laurent Casanova
France

Moderators:  Christian Gilissen, Martin Kircher

S01.1 The quest for deep knowledge – decoding the human genome with deep learning models

Olga Troyanskaya;
United States

S01.2 Leveraging public epigenomic datasets to examine the role of regulatory variation in the three-dimensional organization of the genome

Sushmita Roy;
United States

S01.3 Combining regulatory genomics deep learning with rare-variant association tests

Uwe Ohler;
Germany

Moderators:  Lars Feuk, Cecilia Lindgren

S02.1 Imaging the accessible genome at nanometer scale

James Zhe Liu;
United States

S02.2 Spatially resolved gene expression

Joakim Lundeberg;
Sweden

S02.3 Reading and visualizing single-cell genomes

Pierre Neveu;
Germany

Moderators:  Alexandre Reymond, Zeynep Tümer

S03.1 Journeying through the human endovirome, from species-specific biology to precision oncology

Didier Trono;
Switzerland

S03.2 Models to study the impact of active retrotransposons on the genome

Jose Garcia-Perez;
United Kingdom

S03.3 Activation of transposons in neurological disorders

Johan Jakobsson;
Sweden

Moderators:  Edward Dove, Ramona Moldovan

S04.1 How to transfer genomic data internationally in compliance with the GDPR

Heidi B. Bentzen;
Norway

S04.2 Is the GDPR preventing international genomic data sharing?

Jasper Bovenberg;
The Netherlands

S04.3 1+ Million Genomes Initiative and the GDPR

Regina Becker;
Luxembourg

Moderators:  Serena Nik-Zainal, Jose Luis Costa

S05.1 DNA damage maps

Anna Poetsch;
Germany

S05.2 DNA damage due to suppression of DNA repair in tumorigenesis

Peter Glazer;
United States

S05.3 Mutational signatures of environmental and chemotherapeutic agents in the genomes of human cells

Jill Kucab;
United Kingdom

Moderators:  Elfride De Baere, Maris Laan

S06.1 Rapid evolution of genome regulation in mammals

Duncan Odom;
Germany

S06.2 Leveraging massive-scale population genomics data to unveil functional constraints

Daniel MacArthur;
Australia

S06.3 Cross-species analysis of regulatory elements and logic using deep learning

Stein Aerts;
Belgium

Moderators:  Celine Lewis, Kelly Ormond

S07.1 The art, science and practice of implementing genomics in clinical care

Stephanie Best;
Australia

S07.2 Applying social cognitive theory to improve implementation of genomics in clinical practice

Jeremy Grimshaw;
Canada

S07.3 Social and human sciences informing the implementation of genomics

Catherine Lejeune;
France

Moderators:  Serena Nik-Zainal, Emma Baple

C01.1 Impaired eIF5A function causes a novel developmental syndrome partially rescued in model systems by spermidine

V. Faundes, M.D. Jennings, S. Crilly, S. Legraie, S.E. Withers, S. Cuvertino, S.J. Davies, A.G.L. Douglas, A.E. Fry, V. Harrison, J. Amiel, D. Lehalle, W.G. Newman, P. Newkirk, M. Splitt, J. Ranells, L.A. Cross, C.J. Saunders, B.R. Sullivan, J.L. Granadillo, C.T. Gordon, P.R. Kasher, G.D. Pavitt, Siddharth Banka;
Manchester, United Kingdom

C01.2 Genomic findings in bone blood paired DNA comparison of nonsyndromic craniosynostosis

Yiran Guo, C.L. Kalmar, X. Huang, B. Zhang, Y. Zhu, S. Stefankiewicz, M. Koptyra, J. Mason, T. Patton, E. Appert, L. Lopez, C. Sullivan, A.R. Carlson, M.S. Kosyk, Z.D. Zapatero, P.B. Storm, J.W. Swanson, S.P. Bartlett, J.M. Serletti, A. Resnick, J.A. Taylor;
Phiadelphia, United States

C01.3 Phospholipase C eta-1 (PLCH1) : A new gene that causes Holoprosencephaly

Ichrak Drissi*, E. Fletcher, R. Shaheen, F. Alkuraya, G. Woods;
Cambridge, United Kingdom

C01.4 Clinical delineation, sex differences and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome Type 2

Víctor Faundes*, S. Goh, R. Akilapa, H. Bezuidenhout, H.T. Bjornsson, L. Bradley, A.F. Brady, E. Brischoux-Boucher, H. Brunner, S. Bulk, N. Canham, D. Cody, M.L. Dentici, M.C. Digilio, F. Elmslie, A.E. Fry, H. Gill, J. Hurst, D. Johnson, S. Julia, K. Lachlan, R.R. Lebel, M. Byler, E. Gershon, E. Lemire, M. Gnazzo, F.R. Lepri, A. Marchese, M. McEntagart, J. McGaughran, S. Mizuno, N. Okamoto, C. Rieubland, J. Rodgers, E. Sasaki, E. Scalais, I. Scurr, M. Suri, I. van der Burgt, N. Matsumoto, N. Miyake, V. Benoit, D. Lederer, S. Banka;
Santiago, Chile

C01.5 Mitochondrial dysfunction in FOXG1 syndrome

V.A. Bjerregaard, A.M. Levy, M. Hildonen, R.S. Møller, T.B. Hammer, Zeynep Tümer;
Glostrup, Denmark

C01.6 SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, K. Pang, A. Ciolfi, M.A. Levy, L. Pedace, E. de Boer, A. Jackson, E. Stellacci, S. Lo Cicero, M. Dentici, K. McWalter, P.A. Sanchez-Lara, K. Lindstrom, S. Madan-Khetarpal, J.J. MacKenzie, B. Monteleone, D. Zhou, S.L. Sawyer, F. Paoli Monteiro, E.L. Macke, M. Iascone, A. Selicorni, R. Tenconi, D.J. Amor, K. Stals, S. Cabet, K. Steindl, K. Weiss, A.M.R. Castle, L. Kalsner, K.E. Chandler, W. Sheehan, D.N. Shinde, D. Goodloe, K. Bluske, F. Faletra, E.C. Kurtz-Nelson, B. Anderlid, T. Barakat, J.M. Graham, Jr, L. Faivre, S. Banka, T. Wang, M. Priolo, B. Dallapiccola, L.E.L.M. Vissers, B. Sadikovic, D.A. Scott, J. Holder, Jr, M. Tartaglia;
Rome, Italy

Moderators:  Karin Writzl, William Newman

C02.1 Sudden cardiac death due to ARVC in the young: molecular autopsy by whole exome sequencing of DNA from dried blood spots (DBS) collected at birth

Angelica Maria Delgado-Vega, J. Klar, V. Kommata, A. Wisten, N. Dahl, M. Börjesson, E. Stattin;
Uppsala, Sweden

C02.2 Clustering of the cardiac transcriptome of dilated cardiomyopathy patients reveals opposite molecular signatures among patients with truncating and missense TTN variants

Job A.J. Verdonschot*, P. Wang, K.W.J. Derks, M.T.H.M. Henkens, S.L.V.M. Stroeks, A. van den Wijngaard, I.P.C. Krapels, M.W. Nabben, H.G. Brunner, S.R.B. Heymans;
Maastricht, Netherlands

C02.3 Heterozygous and homozygous Chkb (Choline kinase beta) deficiencies are associated with cardiomyopathy:Insights from a mouse model

Mahtab Tavasoli, T. Feridooni, H. Feridooni, S. Sokolenko, A. Mishra, A. Lefsay, S. Srinivassane, J. Rowsell, M. Praest, A. MacKinnon, M.S. Mammoliti, A.A. Maloney, M. Moraca, K. Uaesoontrachoon, K. Nagaraju, E.P. Hoffman, K.B. Pasumarthi, C.R. McMaster;
Halifax, Canada

C02.4 Whole-exome sequencing 677 aneurysm patients identifies multiple rare variants in the proprotein convertase FURIN causing impaired TGFB family signaling.

Z. He, Rosan L. Lechner*, A. IJpma, D. Heijsman, H.J.M. Verhagen, S. ten Raa, H.T. Bruggewirth, R.M.W. Hofstra, D.F.E. Huylenbroeck, J.W.M. Creemers, D.F. Majoor-Krakauer;
Rotterdam, Netherlands

C02.5 Clinical genetic risk variants inform a functional protein interaction network for tetralogy of Fallot

Miriam S. Reuter, R.R. Chaturvedi, R.K. Jobling, G. Pellecchia, O. Hamdan, W.W.L. Sung, T. Nalpathamkalam, P. Attaluri, C.K. Silversides, R.M. Wald, C.R. Marshall, S. Williams, B.D. Keavney, B. Thiruvahindrapuram, S.W. Scherer, A.S. Bassett;
Toronto, Canada

C02.6 Variants in extracellular matrix and G protein coupled receptor signaling pathways associated with severe supravalvar aortic stenosis in Williams syndrome

D. Liu, Z.C. Wong, C.J. Billington Jr, N. Raja, E. Biamino, M.F. Bedeschi, R. Villa, G.M. Squeo, G. Merla, B.R. Pober, C.A. Morris, C.B. Mervis, A. Roberts, L.R. Osborne, Beth A. Kozel;
Bethesda, United States

Moderators:  Christian Gilissen, Zoltan Kutalik

C03.1 Improved prediction of complex traits from individual-level data and summary statistics

Doug Speed;
Aarhus, Denmark

C03.2 Removing confounders from facial representations trained on the biased patient images

Tzung-Chien Hsieh*, A. H. Hustinx, A. Bar-Haim, T.J. Pantel, N. Fleischer, A. Knaus, P. Krawitz;
Bonn, Germany

C03.3 Enhanced SpliceMap and RNA-seq from clinically accessible tissues improves outlier prediction for non-accessible tissues

Nils Wagner, M. Çelik, J. Gagneur;
Garching, Germany

C03.4 Accounting for temporal information and family history improves power in genome-wide association studies

Emil M. Pedersen, E. Agerbo, O. Plana-Ripoll, J. Grove, J.W. Dreier, K.L. Musliner, S. Dalsgaard, J. Christensen, P.B. Mortensen, J. McGrath, F. Privé, B.J. Vilhjálmsson;
Aarhus, Denmark

C03.5 The impact of copy number variants on complex human traits

Chiara Auwerx*, E. Porcu, M. Lepamets, R. Mägi, A. Reymond, Z. Kutalik;
Lausanne, Switzerland

C03.6 Cancer detection by mining large cell free DNA sequencing dataset

Huiwen Che, T. Jatsenko, L. Dehaspe, L. Lenaerts, N. Brison, K. Van Den Bogaert, L. Vancoillie, I. Parijs, A. Coosemans, F. Amant, S. Tejpar, K. Punie, A. Wozniak, P. Schoffsi, D. Timmerman, D. Lambrechts, P. Vandenberghe, J. Vermeesch;
Leuven, Belgium

Moderators:  Christian Schaaf, Zeynep Tümer

C04.1 Identification of 13 independent genetic loci associated with cognitive resilience in healthy aging in 330,097 individuals in the UK Biobank

J. Fitzgerald, L. Fahey, L. Holleran, P. Ó Broin, G. Donohoe, Derek W. Morris;
Galway, Ireland

C04.2 Genetic Clustering of Repetitive Symptoms, Oppositional Defiant Disorder and Language Disorder and Delay in People with Autism: A Multivariate Genetic Variance Analysis of Genetic Relationship Matrices in the SPARK Sample

Lucía de Hoyos*, M. Barendse, M.M.J. van Donkelaar, E. Verhoef, S.E. Fisher, D. Rai, B. St Pourcain;
Nijmegen, Netherlands

C04.3 Polygenic risk score analysis reveals shared genetic burden between epilepsy and psychiatric comorbidities

Ciaran Campbell*, D. Lewis-Smith, C. Leu, H. Martins, R. Krause, T. O’Brien, G. Sills, F. Zara, B. Koeleman, C. Depondt, A. Marson, H. Stefánnson, J. Craig, M.R. Johnson, P. Striano, A. Jorgensen, H. Lerche, N. Delanty, The EpiPGX Consortium, S. Sisodiya, R. Thomas, G.L. Cavalleri;
Dublin, Ireland

C04.4 Unravelling the cell-type-specific molecular mechanisms linked to Parkinson’s Disease (PD) using bulk and single-cell gene co-expression networks (GCNs)

Alicia Gómez*, A. Martirosyan, K. Hebestreit, C. Mameffe, S. Poovathingal, T.G. Belgard, C.A. Altar, A. Kottick, M. Holt, V. Hanson-Smith, S. Guelfi, J.A. Botía;
Murcia, Spain

C04.5 Analysis of genomic copy number variation across psychiatric disorders

Marieke Klein*, O. Shanta, O. Hong, J. MacDonald, B. Thiruvahindrapuram, A. de Pins, A. Charney, S. Letovsky, J. Humphrey, E. Douard, Z. Saci, S. Jacquemont, ADHD, ASD, Bipolar, Schizophrenia, PTSD and CNV workgroups of the Psychiatric Genomics Consortium, Genes 2 Mental Health Network, S. Scherer, J. Sebat;
La Jolla, United States

C04.6 The impact of clinically relevant CNVs in the general population – the health consequences and personalized management of undiagnosed adult CNV carriers in the Estonian biobank

Margit Nõukas, M. Palover, M. Lepamets, L. Pizzo, K. Lehto, A. Reigo, H. Alavere, L. Leitsalu, E.T. Dermitzakis, I. Xenarios, M. Metspalu, A. Reymond, S. Girirajan, N. Tõnisson, K. Männik;
Tartu, Estonia

Moderators:  Maris Laan, Elfride De Baere

C05.1 Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van Den Bogaert, L. Lannoo, N. Brison, V. Gatinois, M. Baetens, B. Blaumeiser, F. Boemer, L. Bourlard, V. Bours, A. De Leener, M. De Rademaeker, J. Désir, A. Dheedene, A. Duquenne, N. Fieremans, A. Fieuw, J. Gatot, B. Grisart, K. Janssens, S. Janssens, D. Lederer, A. Marichal, B. Menten, C. Meunier, L. Palmeira, B. Pichon, E. Sammels, G. Smits, Y. Sznajer, E. Vantroys, K. Devriendt, J.R. Vermeesch;
Leuven, Belgium

C05.2 A single center’s experience with genome-wide non-invasive prenatal screening: Results of a large unselected consecutive series of cases in Luxembourg

Christian Müller*, G. Jouret, A. Sorlin, P. Theis, C. Olinger, D. Stieber, T. Streng, S. Wagner, V. Leduc, L. Fidanza, K. Benkirane, J. Hertges, A. De Pérdigo, D. Menzies, B. Klinik, D. Bourgeois;
Dudelange, Luxembourg

C05.3 A combined omic analysis revealed autism-linked NLGN3 as a new candidate gene associated to GnRH neuron development and disease.

R. Oleari, A. Lettieri, S. Manzini, A.J.J. Paganoni, P. Grazioli, M. Busnelli, H.L. Storr, V. Massa, S.R. Howard, Anna Cariboni;
Milan, Italy

C05.4 A de novo paradigm for male infertility

Hannah E. Smith*, M.S. Oud, R.M. Smits, F.K. Mastrorosa, G.S. Holt, B.J. Houston, P.F. de Vries, B.K.S. Alobaidi, L. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D.D.M. Braat, K. Fleischer, K.W.M. D’Hauwers, E. Schaafsma, D. Conrad, C. Friedrich, S. Kliesch, K.I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D.J. Elliott, L.E.L.M. Vissers, F. Tüttelmann, M.K. O’Bryan, L. Ramos, M.J. Xavier, G.W. van der Heijden, J.A. Veltman;
Newcastle Upon Tyne, United Kingdom

C05.5 2006-2018: Thirteen years of prenatal diagnosis and preimplantation genetic diagnosis for single gene disorders in France

Florence Fellmann, B. Majed, P. Lévy, I. Evrard, P. Jonveaux;
Saint-Denis La Plaine, France

C05.6 Health outcomes at birth, 12 and 24 months of 747 children conceived after Preimplantation Genetic Testing: a single centre experience

Tazeen Ashraf, L. Trevisan, F. Forzano, Y. Khalaf, C. Tomlins, P.Renwick, A. Davies, S. Bint, M. Semple, C. Deshpande, F. Flinter, A. Lashwood, Guys Hospital PGD Team;
Manchester, United Kingdom

Moderators:  Hana Lango Allen, Vita Dolzan

C06.1 Genomic sequencing and healthcare dynamics to track nosocomial SARS-CoV-2 transmission

Jamie M. Ellingford*, R. George, J.H. McDermott, S. Ahmad, J.J. Edgerley, D. Gokhale, W.G. Newman, S. Ball, N. Machin, G.C.M. Black;
Manchester, United Kingdom

C06.2 Genetic landscape of the ACE2 coronavirus receptor

X. Shen, E. Macdonald-Dunlop, Zhijian Yang*, J. Chen, Z. Ning, A. Richmond, L. Klari, N. Pirastu, T. Li, R. Zhai, C. Zheng, Y. Wang, K. Ying, Y. He, H. Guo, the SCALLOP Consortium, the GenOMICC Consortium, the IMI-DIRECT Consortium, Y. Pawitan, P.K. Joshi, J. Baillie, A. Mälarstig, A.P. Reiner, J.F. Wilsons;
Guangzhou, China

C06.3 Role of HLA on COVID19 risk and outcomes in the UK Biobank

Olympe Chazara, A. O’Neill, N. Camacho, K. Lythgow, S. Petrovski;
Melbourn, United Kingdom

C06.4 More nature, less nurture: Longitudinal follow-up of mental health reveals an increasing impact of genetic variants, associated with personality traits

Henry H. Wiersma*, R. Warmerdam, P. Lanting, Lifelines Corona Research Project, LifeLines Cohort Study, P. Deelen, L. Franke;
Groningen, Netherlands

Moderators:  Nicola Brunetti-Pierri, Aurora Pujol

C07.1 Biallelic variants in mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects resulting in pleiotropic multisystem presentations

I. Hochberg, L.A.M. Demain, J. Richer, K. Thompson, W. Pagarkar, A. Rodríguez-Palmero Seuma, E. Verdura, A. Pujol, A. Amberger, A.J. Deutschmann, S. Demetz, J. O’Sullivan, M. Gillespie, I.A. Belyantseva, H.J. McMillan, M. Barzik, J.E. Urquhart, Alessandro Rea, G.M. Beaman, S.G. Williams, S.S. Bhaskar, I.R. Lawrence, E.M. Jenkinson, J.L. Zambonin, Z. Blumenfeld, S. Yalonetsky, S. Oerum, W. Rossmanith, Genomics England Research Consortium, W.W. Yue, J. Zschocke, K.J. Munro, B.J. Battersby, T.B. Friedman, R.W. Taylor, R.T. O’Keefe, W.G. Newman;
Manchester, United Kingdom

C07.2 Clinician led analysis of WGS data confers a diagnostic uplift in suspected primary mitochondrial disease

William L. Macken*, C. Mckittrick, C. Pizzamiglio, E. Bugiardini, C. Woodward, R. Labrum, H. Houlden, R. Quinlivan, M.G. Hanna, J. Vandrovcova, R.D.S. Pitceathly;
London, United Kingdom

C07.3 Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multi-system disease.

Gerarda Cappuccio*, C. Ceccatelli Berti, E. Baruffini, J. Sullivan, V. Shashi, T. Jewett, T. Stamper, S. Maitz, F. Canonico, A. Revah- Politi, G.S. Kupchik, K. Anyane-Yeboa, V. Aggarwal, A. Benneche, E. Bratland, S. Berland, F. D’Arco, C. Alves, A. Vanderver, D. Longo, E. Bertini, A. Torella, V. Nigro, Telethon Undiagnosed Diseases Program, A. D’Amico, M.S. van der Knaap, P. Goffrini, N. Brunetti-Pierri;
Naples, Italy

C07.4 A Pex7 deficient mouse series correlates biochemical and neurobehavioral markers to genotype severity – implications for the disease spectrum of rhizomelic chondrodysplasia punctata type1 (RCDP1)

Wedad Fallatah*, W. Cui, E. Di Pietro, F. Dorninger, C. Pifl, G. Carter, B. Pounder, A. Moser, J. Berger, N. Braverman;
Montreal, Canada

C07.5 Bi-allelic missense variants in oxoglutarate dehydrogenase (OGDH) lead to a neurodevelopmental disorder characterised by hypotonia, developmental delay and metabolic abnormalities

Ella Whittle, M. Chilian, H. Progri, E. Karimiani, D. Buhas, I. Shelihan, R. Colombo, A. Serretti, H. Yang, S. Lee, A.M. Pittman, R. Maroofian, W. Yoon, C.J. Carroll;
London, United Kingdom

C07.6 Ldhd-knockout mice recapitulate human metabolomic fingerprint of Gout, providing novel model organism for the disease

Max Drabkin*, I. Abramovich, N. Agam, E. Gottlieb, O.S. Birk;
Beer-Sheva, Israel

Moderators:  Martin Kircher, Christian Gilissen

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

E01.4 Creating, integrating and joint analysis of state-of-the-art single-cell multi-omics data

Boyan Bonev;
Germany