Tuesday, June 9 – Virtual Conference

Chairs:  Serena Nik-Zainal
Room:   A6+A7

S18.1 Somatic Mutation and Clonal Expansions in Human Tissues

Inigo Martincorena;
United Kingdom

S18.2 Somatic Genetic Rescue in Mendelian Haematopoietic Diseases

Patrick Revy
France

S18.3 Somatic Mutations and Regeneration in Chronic Liver Disease

Hao Zhu;
United States

Chairs:  Sam Riedijk
Room:   A8

S19.1 Array-based mutation testing, PRS, PGx, and return of results in a hospital setting: the GOALL project

Andre Uitterlinden;
The Netherlands

S19.2 Empirical Evidence in Preventive Genomics: MedSeq, BabySeq and Beyond

Carrie Blout;
United States

S19.3 The challenges facing clinical-research hybrid practices

Anneke Lucassen;
United Kingdom

Chairs:  Matti Pirinen
Room:   A3

S20.1 Combining omics data with GWAS results

Alexander Gusev;
United States

S20.2 A Bayesian Framework for Joint Fine-Mapping with Applications to Immune-Mediated Diseases

Jennifer Asimit;
United Kingdom

S20.3 Integrative Transcriptomic Analysis in Neurodegenerative Diseases

Towfique Raj;
United States

Chairs:   tba
Room:   Hall B

C26.1 Electrical impedance detection based GenapSys sequencer enables diverse genomic applications

Saurabh Paliwal, A. Nabi, M. Fallahi, M.R. Barmi, M. Jouzi, S. Stern, X. Gomes, H. Nezamfar, E. LoPrete, B. Dong, P. Kenney, K.B. Parizi, H. Rategh, S. Sankar, H. Esfandyarpour;
Redwood City, United States

C26.2 Genome wide mapping of DNA damage lesions by Repair-Assisted DNA Damage (R.A.D.D) sequencing and optical mapping

Yael Michaeli, H. Sharim, N. Gilat, N. Gassman, Y. Ebenstein;
Tel Aviv, Israel

C26.3 Analysis of Mendelian phenotypes through mouse embryo viability screening

Pilar Cacheiro, S.A. Murray, V. Muñoz-Fuentes, H. Westerberg, M.E. Dickinson, A. Mallon, T.F. Meehan, D. Smedley, the International Mouse Phenotyping Consortium;
London, United Kingdom

C26.4 Patient-derived retinal organoids to model retinitis pigmentosa 1 (RP1)

Patricia Berber*, A. Milenkovic, C. Brandl, B.H.F. Weber;
Regensburg, Germany

C26.5 High-throughput sequencing and mapping technologies applied to 10 human genomes with chromothripsis-like rearrangements

Uira Melo, R. Schöpflin, D. Heller, J. Herztberg, H. Moeinzadeh, M. Holtgrewe, M. Klever, J. Jungnitsch, S. Türkmen, V. Beensen, G. Barbi, B. Prager, A. Latos-Bielenska, M. Bugge, I. Vogel, N. Tommerup, V. Kalscheuer, M. Spielmann, M. Vingron, S. Mundlos;
Berlin, Germany

C26.6 Next generation cytogenetics: genome-imaging improves structural variant detection for constitutional chromosomal aberrations

Kornelia Neveling, T. Mantere, E. Kater-Baats, R. van Beek, M. Oorsprong, S. Vermeulen, M. Pauper, D. Olde Weghuis, M. Stevens-Kroef, G. van der Zande, D. Smeets, A. Hoischen;
Nijmegen, Netherlands

Chairs:  tba
Room:   A6+A7

C27.1 NCBI ALFA: Providing Sequence Variation Resource from 1 Million dbGaP Subjects

Lon Phan, NCBI dbSNP, NCBI dbGaP;
Bethesda, United States

C27.2 Predicting the effects of structural variants in the human genome

Philip Kleinert*, M. Kircher;
Berlin, Germany

C27.3 RNA secondary structure mediated by Alu insertion as a novel disease-causing mechanism

Emmanuelle Masson, S. Maestri, D.N. Cooper, C. Férec, J.M. Chen;
Brest, France

C27.4 Increased mutation rates and genome variation at active spermatogonial regulatory sites

Vera B. Kaiser, L. Talmane, Y. Kumar, F. Semple, M. MacLennan, Deciphering Developmental Disorders Study, D.R. FitzPatrick, M.S. Taylor, C.A. Semple;
Edinburgh, United Kingdom

C27.5 Resolving complex structural variants in recurrent brain tumors

K. Okonechnikov, J. Hübner, O. Chapman, A. Chakraborty, M. Pagadal, R. Bumb, S. Chandran, K. Kraft, R. Hidalgo, S. Mundlos, R. Wechsler-Reya, N. Coufal, M. Levy, J. Crawford, K. Pajtler, D. Reid, A. Schmitt, H. Carter, F. Ay, J. Dixon, J. Mesirov, S.M. Pfister, M. Kool, Lukas Chavez;
San Diego, United States

C27.6 Genomics England Data Aggregation: A deep catalogue of human variation data from 78,683 whole genomes

Loukas Moutsianas, M. Wielscher, A. Stuckey, S. Hunt, D.J. Rhodes, C.A. Odhams, I.M. Armean, P. Short, P. Flicek, A. Need, M. Hurles, E. Birney, M. Caulfield, A. Rendon, The Genomics England Research Consortium;
London, United Kingdom

Chairs:  tba
Room:   A3

C28.1 Pathogenic variants in RLIM/RNF12 lead to syndromic X-linked intellectual disability and congenital, neurologic and behavior disorders

Suzanna G.M. Frints, A. Ozanturk, G. Rodriguez Criado, U. Grasshoff, M. Field, S. Manouvrier-Hanu, S. Hickey, K. Gripp, C. Bauer, C. Schroeder, A. Toutain, T. Mihalic Mosher, B.J. Kelly, P. White, A. Dufke, S. Moon, D.C. Koboldt, E. Gerkes, A. van Haeringen, C. Ruivenkamp, C. Mignot, B. Keren, A. Müller, S. Waldmüller, M. Blandfort, U. Kordaß, K. Gardner, A. Trimouille, K.E.P. van Roozendaal, S.A. Haas, L. Murray, E. Haan, R. Carroll, J. Liebelt, L. Hobson, M. De Rademaeker, H. Brunner, J. Glatz, K. Devriendt, J. Vermeesch, M. Raynaud, O. Riess, J. Gribnau, N. Katsanis, P. Bauer, J. Gecz, C. Golzio, C. Gontan, V. Kalscheuer;
Maastricht, Netherlands

C28.2 De-novo and Biallelic pathogenic variants in NARS1 cause neurodevelopmental delay due to dominant negative and partial loss of function effect

Emer O’Connor, A. Manole, S. Efthymiou*, M. Mendes, M. Jennings, D. Jenkins, M. Lopez, R. Maroofian, V. Salpietro, S. Antonarakis, J. Vincent, T. B. Haack, F. Distelmaier, R. Horvath, J. Gleeson, H. Becker, J. Mandel, D. Koolen, H. Houlden;
London, United Kingdom

C28.3 Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

Frederike L. Harms*, P. Parthasarathy, D. Zorndt, M. Alawi, S. Fuchs, B.J. Halliday, C. McKeown, H. Sampaio, N. Radhakrishnan, S.K. Radhakrishnan, R. Sachdev, S.P. Robertson, S. Nampoothiri, K. Kutsche;
Hamburg, Germany

C28.4 De novo pathogenic variants in CSNK2B cause a new intellectual disability-craniodigital syndrome distinguished from Poirier-Bienvenu neurodevelopmental syndrome

Maria Asif*, E. Kaygusuz, M. Shinawi, A. Nickelsen, J. Hochscherf, D. Lindenblatt, A.A. Noegel, S. Tinschert, K. Niefind, P. Fortugno, J. Jose, F. Brancati, P. Nürnberg, M.S. Hussain;
Cologne, Germany

C28.5 Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies

Gabriel C. Dworschak*, J. Punetha, J.C. Kalanithy, E. Mingardo, H.B. Erdem, Z.C. Akdemir, E. Karaca, T. Mitani, D. Marafi, J.M. Fatih, S.N. Jhangiani, J.V. Hunter, T. Dakal, B. Dhabhai, O. Dabbagh, H.S. Alsaif, F.S. Alkuraya, R. Maroofian, H. Houlden, S. Efthymiou, N. Dominik, V. Salpietro, T. Sultan, S. Haider, F. Bibi, H. Thiele, J. Hoefele, K.M. Riedhammer, M. Wagner, I. Guella, M. Demos, B. Keren, J. Buratti, P. Charles, C. Nava, E. Valkanas, L.B. Waddell, K.J. Jones, E.C. Oates, S.T. Cooper, D. MacArthur, R.E. Schnur, G.E. Hoganson, J.E. Burton, M. McEntagart, D. Pehlivan, J.E. Posey, J.R. Lupski, H. Reutter;
Bonn, Germany

C28.6 Mutations in Gemin5 cause developmental delay, motor dysfunction and cerebellar atrophy

Udai Pandey;
Pittsburgh, United States

Chairs:  tba
Room:   A2

C29.1 Homozygous loss-of-function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta

Johanne Dubail, P. Brunelle, G. Baujat, C. Huber, M. Doyard, C. Michot, P. Chavassieux, A. Khairouni, V. Topouchian, S. Monnot, E. Koumakis, V. Cormier-Daire;
Paris, France

C29.2 Hypomorphic variants in the replication complex member GINS3 result in a Meier Gorlin phenotype

Peter Kannu, E. Campos, H. Wurtele, K. Ahmed, R. Shaheen, M. McQuaid, K. Kernohan, K. Boycott, Z. Alhassnan, F. Alkuraya;
Toronto, Canada

C29.3 Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia

Aude Beyens*, C. Adamo, E. Yilmaz Gulec, A. Gezdirici, P. Bonaldo, H. Bornaun, E. Brauchle, J. Brinckmann, W.P. Devine, B. Gangaram, T. Sasaki, K. Schenke-Layland, S. Symoens, A. Tam, G. Sengle, B. Callewaert;
Ghent, Belgium

C29.4 Transcriptional single-cell atlas of human limb malformation candidate genes

Cesar A. Prada-Medina*, G. Cova, J. Glaser, C. Dietrich, J. Henck, S. Mundlos, M.A. Mensah, M. Spielmann;
Berlin, Germany

C29.5 Tendon-to-bone attachment cells are bi-fated are regulated by shared enhancers KLF transcription factors

S. Kult, Tsviya Olender, M. Osterwalder, S. Krief, R. Blecher-Gonen, S. Ben-Moshe, L. Farack, H. Keren-Shaul, D. Leshkowitz, T.M. Salame, T.D. Capellini, S. Itzkovitz, I. Amit, A. Visel, E. Zelzer;
Rehovot, Israel

C29.6 Melorheostosis: two radiographic patterns are caused by somatic mosaicism for different genes with distinct pathophysiology underlying different clinical and histological presentation

Heeseog Kang, S. Jha, A. Ivovic, N. Fratzl-Zelman, Z. Deng, A. Mitra, W.A. Cabral, E.P. Hanson, E. Lange, E.W. Cowen, J. Katz, P. Roschger, K. Klaushofer, R.K. Dale, R.M. Siegel, T. Bhattacharyya, J.C. Marini;
Bethesda, United States

Chairs:  tba
Room:   A1

C30.1 Using reference-fixed principal components to improve polygenic risk score prediction

Olivier Naret*, J. Fellay;
Lausanne, Switzerland

C30.2 The Polygenic Score (PGS) Catalog: an open database to enable reproducibility and systematic evaluation

Samuel A. Lambert*, L. GIl, S. Jupp, M. Chapman, H. Parkinson, J. Danesh, J.A.L. MacArthur, M. Inouye;
Cambridge, United Kingdom

C30.3 Polygenic risk, breast cancer susceptibility genes, and breast cancer over the life course

Nina Mars*, E. Widén, T. Meretoja, S. Kerminen, M. Pirinen, P. Palta, A. Palotie, J. Kaprio, H. Joensuu, M. Daly, S. Ripatti;
Helsinki, Finland

C30.4 Genetic assessment of age-associated fracture risk

Carolina Medina-Gomez*, K. Trajanoska, C. Fan, O.A. Andreassen, M. Zillikens, A.M. Dale, A.G. Uitterlinden, T.M. Seibert, F. Rivadeneira;
Rotterdam, Netherlands

C30.5 Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic disease

Scott C. Ritchie*, Y. Liu, S.A. Lambert, B.G. Drew, A.C. Calkin, A.S. Butterworth, J. Danesh, M. Inouye;
Cambridge, United Kingdom

C30.6 Returning polygenic risk information for coronary artery disease and other traits to biobank participants

Minttu M. Marttila, T. Paajanen, H. Marjonen, A. Haukkala, H. Kääriäinen, K. Kristiansson, M. Perola;
Helsinki, Finland

Chairs:  tba
Room:   A4

C31.1 “It’s probably nothing, but⋯” Couples’ experiences of pregnancy following a uncertain prenatal genetic result

Stina Lou, K. Lomborg, C. Lewis, S. Riedijk, O. Petersen, I. Vogel;
Aarhus, Denmark

C31.2 Additional Genomic Findings: towards a feasible, effective model of care

E. Lynch, M. Martyn, L. Lee, A. Kanga-Parabia, R. Weerasuriya, R. Tytherleigh, Clara L. Gaff;
Parkville, Australia

C31.3 Analysis of laboratory exome sequencing reporting practices using a ‘virtual patient’

Danya F. Vears, M.G. Elferink, M. Kriek, P. Borry, K.L. van Gassen;
Leuven, Belgium

C31.4 Knowledge, attitudes and preparedness for polygenic risk testing in clinical practice: a cross-sectional survey of health professionals

Amelia K. Smit*, A.E. Cust, K. Dunlop, M. Young, B. Meiser, J. Tiller, T. Yanes;
Sydney, Australia

C31.5 Impact of the discussion of uncertainty on former counselees’ outcomes. An experimental vignettes study

Niki Medendorp, M. Hillen, C. Aalfs, A. Stiggelbout, E. Smets;
Amsterdam, Netherlands

C31.6 Primary Care Genomics: A roadmap for curriculum change and educational resource development

J. Hayward, I. Rafi, S. Simpson, E. Miller, A. Seller, Michelle Bishop;
Birmingham, United Kingdom

Chairs:  Alexandre Reymond, Joris Veltman
Room:   Hall C

PL4.1  Mendel Lecture

Aviv Regev;
Cambridge, United States

Chairs:  Alexandre Reymond, Joris Veltman
Room:   Hall C

PL5.1  ESHG Award Lecture

Wendy Bickmore;
Edinburgh, United Kingdom

Chairs:  Alexandre Reymond, Joris Veltman
Room:   Hall C

EJHG-SN Citation Awards

ESHG Awards for Best Presentations by Young Investigators

European DNA Day Contest

Closing Address