Monday, June 8

Chairs:  Elfride de Baere
Room:   A6+A7

S10.1 From digenic predictions to oligogenic networks via a new predictive approach

Tom Lenaerts;
Belgium

S10.2 Common Variants Determine Quasi-Mendelian Inheritance of Rare Diseases

Carlo Rivolta;
Switzerland

S10.3 Testing the Limits of Mendelian Inheritance Through Autozygosity

Fowzan Alkuraya;
Saudi Arabia

Chairs:   Jose Luis Costa
Room:    A8

S11.1 Single-Cell RNA-Seq on Tumor Microenvironment in Lung Cancer

Bernard Thienpont;
Belgium

S11.2 Single-Cell Analysis in Tumour Progression

Alex Swarbrick;
Australia

S11.3 Single cell to understand AML progression

Alexander Perl;
United States

Chairs:  Maris Laan
Room:   A2

S12.1 The unsung hero: The essential role of the placenta for development and lifelong health

Myriam Hemberger;
Canada

S12.2 Genetics of Recurrent Hydatidiform Moles: Novel Findings and Patient Counselling

Rima Slim;
Canada

S12.3 Organoids to understand pregnancy disorders

Graham J. Burton;
United Kingdom

Chairs:   Francesca Forzano
Room:    A1

S13.1 The state of the science of heritable human genome editing and ethical concerns

Michele Ramsay;
South Africa

S13.2 Addressing Misuse of Science in Surveillance

Yves Moreau;
Belgium

S13.3 Using Direct to Consumer Test for Forensic Purposes

Amade M’charek;
The Netherlands

Chairs:   Nicola Brunetti-Pierri
Room:    A4

S14.1 The Lysosome in the Control of Cell Metabolism

Andrea Ballabio;
Italy

S14.2 Lysosomal Storage Disorders: The Attenuated Phenotypes

Carla Hollak;
The Netherlands

S14.3 Therapy of Lysosomal Storage Disorders – Lessons from Fabry Disease

Raphael Schiffmann;
United States

Chairs:   Joris Veltman
Room:    A3

E10.1 Gene therapy in genetic disorders

Marina Cavazzana;
France

E10.2 Trial readiness, trial endpoints and stakeholder collaboration

Volker Stauber;
United Kingdom

Chairs:   Zoltan Kutalik
Room:    A5

E11.1 Heritability Estimation and Gene-Environment Interactions

Alexander Young;
United Kingdom

E11.2 Flexible Heritability Estimation from Summary Statistics

Doug Speed;
Denmark

Chairs:  tba
Room:   A6+A7

C17.1 An innovative dual-reporter cell line to identify protein level modulators in drug-repositioning for rare genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)

Elisa Giorgio, E. Pesce, E. Pozzi, E. Sondo, M. Lorenzati, M. Ferrero, G. Borrelli, E. Della Sala, A. Buffo, N. Pedemonte, A. Brusco;
Torino, Italy

C17.2 Low-dose infigratinib, an oral selective fibroblast growth factor receptor (FGFR) tyrosine kinase inhibitor (TKI), demonstrates activity in preclinical models of achondroplasia (ACH)

Benoit Demuynck, J. Flipo, G. Li, C. Dambkowski, L. Legeai-Mallet;
Paris, France

C17.3 CRISPR/Cas9 gene editing approach completely repaired the causative COL4A5 10bp deletion in a naturally occurring dog model of Alport Syndrome.

Sergio Daga*, K. Capitani, F. Donati, G. Beligni, S. Croci, F. Valentino, C. Fallerini, R. Tita, C. Rivera, S. Clark, M. Mencarelli, M. Baldassarri, E. Benetti, S. Furini, E. Frullanti, M. Nabity, A. Auricchio, S. Conticello, A. Renieri, A. Pinto;
Siena, Italy

C17.4 Single-intrathecal delivery of a new AAV9-mediated gene therapy vector provides long-term safe expression of frataxin and prevents neurological and cardiac deficits, neurodegeneration and iron deposition in a Friedreich’s Ataxia mouse model

Eudald Balagué*, D. Cota-González, K. Adrián-Campbell, B. García-Lareu, A. Bosch, J. Coll-Cantí, M. Chillón, I. Sánchez, A. Matilla-Dueñas;
Badalona, Spain

C17.5 HDAC inhibitor CI-994 rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

A. Cooper, Tamer Butto, N. Hammer, S. Jagannath, D. Lucia Fend-Guella, J. Akhtar, K. Radyushkin, F. Lesage, J. Winter, S. Strand, J. Roeper, U. Zechner, S. Schweiger;
Mainz, Germany

C17.6 Targeting STAT3 signalling in CYLD cutaneous syndrome

N. Sinclair, K. Hodgson, M. Kurzawa-Akanbi, S. Cockell, J. Reichelt, C. Thiele, Neil Rajan;
Newcastle upon Tyne, United Kingdom

Chairs:  tba
Room:   A8

C18.1 Development of a rapid functional assay on peripheral blood for clinical interpretation of germline TP53 variants and detection of non-coding functional variants

S. Raad, M. Rolain, S. Coutant, C. Derambure, R. Lanos, F. Charbonnier, J. Bou, E. Bouvignies, G. Lienard, S. Vasseur, M. Farrel, O. Ingster, S. Baert-Desurmont, E. Kasper, G. Bougeard, T. Frébourg, Isabelle Tournier;
Rouen, France

C18.2 Are pathogenic germline variants in metastatic melanoma associated with unfavorable survival?

Saskia Biskup, T. Amaral, T. Sinnberg, M. Nieser, P. Martus, C. Garbe, F. Battke, A. Forschner, M. Schulze;
Tuebingen, Germany

C18.3 Germline, somatic and clinical associations with response to Immune Checkpoint Inhibitors and adverse events in a large patient cohort

Stefan Groha*, S. Abou Alaiwi, K. Taraszka, E. Lepisto, M. Manos, O. Rahma, T. Choueiri, M.L. Freedman, D. Schrag, K. Kehl, A. Gusev;
Boston, United States

C18.4 Rare germline variants in the tumor suppressor gene CDH1 are associated with familial glioma

Alisa Förster*, F. Brand, R. Banan, R. Hüneburg, C.A.M. Weber, N. Elyan, C. Previti, J. Kronenberg, U. Beyer, H. Martens, B. Hong, J.K. Krauss, J.H. Bräsen, A. Zimpfer, M. Stangel, A. Samii, S. Wolf, S. Aretz, B. Wiese, C. Hartmann, R.G. Weber;
Hannover, Germany

C18.5 Prostate cancer risk and prognosis for carriers of germline pathogenic variants in disease implicated genes

Niedzica Nadia Camacho Ordonez, L. Dong, A. Matakidou;
Melbourn, Royston, Hertfordshire, United Kingdom

C18.6 Clinical and molecular characterization of 1253 carriers of a deleterious CHEK2 mutation from the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC)

Wisam Habhab, U. Faust, G. Günther, U. Siebers-Renelt, M. Kiechle, C. Ott, N. Dikow, K. Kast, A. Vesper, C. Solbach, N. Harbeck, M. Stiller, A. Gehrig, C. Thomssen, H. Wallaschek, N. Arnold, I. Holzhauser, S. Kaulfuß, A. Volk, W. Janni, C. Engel, R. Schmutzler, O. Rieß, C. Schroeder, K. Bosse;
Tuebingen, Germany

Chairs:   tba
Room:   A3

C19.1 One test for all: whole genome sequencing in 62 trios with congenital limb malformation identifies structural variants and new disease genes

J. Elsner, M.A. Mensah, M. Holtgrewe, W. Hülsemann, S. Mundlos, Malte Spielmann;
Berlin, Germany

C19.2 Biallelic mutations inTOGARAM1 cause a novel primary ciliopathy

V. Morbidoni, E. Agolini, K.C. Slept, L. Pannone, D. Zuccarello, E. Grosso, G. Gai, L. Salviati, B. Dallapiccola, A. Novelli, S. Martinelli, Eva Trevisson;
Padova, Italy

C19.3 Biallelic loss-of-function variations in SMO, encoding the key transducer of the Sonic Hedgehog pathway, cause a broad phenotypic spectrum of hedgehogopathies

Thuy L. LE*, Y. Sribudiani, X. Dong, C. Huber, C. Kois, G. Baujat, C.T. Gordon, V. Mayne, L. Galmiche, V. Serre, N. Goudin, M. Zarhrate, C. Bole-Feysot, C. Masson, P. Nitschké, F.W. Verheijen, L. Pais, A. Pelet, S. Sadedin, J.A. Pugh, N. Shur, S.M. White, S.E. Chehadeh, J. Christodoulou, V. Cormier-Daire, R.M.W. Hofstra, S. Lyonnet, T.Y. Tan, T. Attié-Bitach, W.S. Kerstjens-Frederikse, J. Amiel, S. Thomas;
Paris, France

C19.4 Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Matias Wagner*, Y. Skorobogatko, B. Pode-Shakked, C.M. Powell, B. Alhaddad, A. Seibt, O. Barel, G. Heimer, C. Hoffmann, L.A. Demmer, Y. Perilla-Young, M. Remke, D. Wieczorek, T. Navaratnarajah, P. Lichtner, D. Klee, H.E. Shamseldin, F.A. Mutairi, E. Mayatepek, T.M. Strom, T. Meitinger, F.S. Alkuraya, Y. Anikster, A.R. Saltiel, F. Distelmaier;
Munich, Germany

C19.5 Functional genomics and extended analyses of unsolved exome-negative cases through the Undiagnosed Diseases Project in Victoria (UDP-Vic)

Tiong Y. Tan, T. Cloney, N.B. Tan, L. Gallacher, J. Elliott, G. Helman, C. Simons, S. Sadedin, L. Pais, A. O’Donnell-Luria, J. Christodoulou, S.M. White;
Parkville, Melbourne, Australia

C19.6 Identification of DNA methylation episignatures for PRC2-related overgrowth syndromes

Michael A. Levy, E. Aref-Eshghi, T.B. Balci, J. Kerkhof, G. Merla, C. Schwartz, B. Sadikovic;
London, Canada

Chairs:  tba
Room:   A2

C20.1 An ancestral 10bp repeat expansion in gene encoding component of ECM causes a novel autosomal-recessive peripheral neuropathy

Alistair T. Pagnamenta, Y. Zou, S. Donkervoort, S.B. Neuhaus, R. Maroofian, N. Dominik, H.Y. Yip, A.H. Nemeth, M. O’Driscoll, F. Norwood, J. Rankin, T. Lavin, C. Marini-Bettolo, H. Jungbluth, L. Medne, S.Y. Yum, A.R. Foley, A. Need, Genomics England Research Consortium, J.C. Taylor, C.G. Bönnemann, H. Houlden;
Oxford, United Kingdom

C20.2 Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy

Natalia Mendoza Ferreira, M. Karakaya, N. Cengiz, D. Beijer, N. Fuhrmann, I. Hölker, B. Schrank, K. Brigatti, C. Gonzaga-Jauregui, E. Puffenberger, G. Wunderlich, P. De Jonghe, T. Deconinck, K. Strauss, J. Baets, B. Wirth;
Cologne, Germany

C20.3 Biallelic JAM2 variants lead to early-onset recessive primary familial brain calcification

Lucia V. Schottlaender*, R. Abeti, Z. Jaunmuktane, C. Macmillan, V. Chelban, B. O’Callaghan, J. McKinley, R. Maroofian, S. Efthymiou, A. Fragkou, R. Forbes, M. Soutar, J. Livingston, B. Kalmar, B. Kalmar, O. Swayne, G. Hotton, A. Pittman, J. Mendes de Oliveira, M. de Grandis, A. Richard-Loendt, F. Launchbury, J. Althonayan, G. McDonnell, A. Carr, S. Khan, C. Beetz, A. Bisgin, S. Tug Bozdogan, A. Begtrup, E. Torti, L. Greensmith, P. Giunti, P. Morrison, S. Brandner, M. Aurrand-Lions, H. Houlden;
Capital federal, Argentina

C20.4 Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler*, A. Nikoncuk, S. Yousefi, W.M. Berdowski, M. Alsagob, I. Capo, H.C. van der Linde, P. van den Berg, E.H. Jacobs, D. Putar, M. Ghazvini, E. Aronica, W.F.J. van IJcken, W.G. de Valk, E. Medici–van den Herik, M. van Slegtenhorst, L. Brick, M. Kozenko, J.N. Kohler, J.A. Bernstein, K.G. Monaghan, A. Begtrup, R. Torene, A. Al Futaisi, F. Al Murshedi, F. Al Azri, E. Kamsteeg, M. Mojarrad, A. Eslahi, E. Ghayoor Karimiani, J. Vandrovcova, F. Zafar, N. Rana, K.K. Kandaswamy, J. Hertecant, P. Bauer, D. Colak, S. Efthymiou, H. Houlden, A.M. Bertoli-Avella, R. Maroofian, K. Retterer, A.C. Brooks, N. Kaya, T.J. van Ham, T. Barakat;
Rotterdam, Netherlands

C20.5 Human-lineage-specific genomic elements are enriched within genes implicated in neurodegenerative diseases

Zhongbo Chen*, D. Zhang, R.H. Reynolds, J. Hardy, J. Botía, S.A. Gagliano Taliun, M. Ryten;
London, United Kingdom

C20.6 Full-length RNA sequencing of Alzheimer brain sample using long reads reveals complex alternative splicing patterns

Jenny Ekholm, E. Tseng, T. Hon, J. Underwood;
Menlo Park, United States

Chairs:  tba
Room:   A1

C21.1 A genome-wide association study of sex at birth in 3 million individuals reveals widespread sex-differential participation bias with potential implications for GWAS interpretation

N. Piratsu, M. Cordioli, G. Mignogna, A. Abdellaoui, P. Nandakumar, B. Hollis, M. Kanai, V. Manikandan, P. Della Briotta Parolo, N. Baya, C. Carey, J. Karjalainen, T.D. Als, M.D. Van der Zee, F.R. Day, K.K. Ong, T. Morisaki, E. de Geus, R. Bellocco, Y. Okada, A. Børglum, P. Joshi, A. Auton, D. Hinds, B. Neale, R. Walters, Finngen Study, 23andMe Research Team, iPSYCH Consortium, M.G. Nivard, J.R.B. Perry, Andrea Ganna;
Helsinki, Finland

C21.2 A phenome-wide gene-based collapsing analysis of rare loss-of-function and missense variation in 268,451 UK Biobank exomes

Q. Wang, K. Carss, K. Smith, Slavé Petrovski;
Cambridge, United Kingdom

C21.3 FinnGen – study at its midway: already identifying dozens of novel variants for tens of diseases and traits

Markus Perola;
Helsinki, Finland

C21.4 Discovery, estimation and prediction analysis using a Bayesian survival model for complex traits

Sven E. Ojavee*, D. Trejo-Banos, M. Patxot, K. Fischer, A. Kousathanas, M.R. Robinson;
Lausanne, Switzerland

C21.5 Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics

Liza Darrous*, N. Mounier, Z. Kutalik;
Lausanne, Switzerland

C21.6 Multi-trait genome-wide association analysis of blood pressure identifies 45 additional loci

Claudia P. Cabrera, R. Pazoki, A. Giri, J.N. Hellwege, E. Evangelou, J. Ramírez, L.V. Wain, I. Tzoulaki, T.L. Edwards, P. Elliott, P.B. Munroe, M.R. Barnes, M.J. Caulfield, H.R. Warren, on behalf of the VA Million Veteran Program and the ICBP working group;
London, United Kingdom

Chairs:  tba
Room:   A5

C22.1 Newborn screening for severe combined immunodeficiency (SCID) using combined T cell reception excision circles (TREC)/kappa-deleting element recombination element (KREC) assays and next generation sequencing: diagnostic yield from the new established Swiss programme

Magdeldin Elgizouli, J. Pascal, A. Bahr, S. Prader, D. Drozdof, J. Pachlopnik Schmid, K. Steindl, A. Rauch, J. Reichenbach;
Schlieren, Switzerland

C22.2 Strategies for increasing diagnostic rate in patients with primary immunological disorders within the Genomics England 100,000 Genomes Project

Carme Camps, H. Griffin, K. Engelhardt, Genomics England Research Consortium, S.Y. Patel, S. Hambleton, J.C. Taylor;
Oxford, United Kingdom

C22.3 Dysregulated expression of the long intergenic non-coding RNA (lincRNA), LINC01871, implicated in Sjögren’s Syndrome pathogenesis

M.L. Joachims, B. Khatri, K.L. Tessneer, A.M. Stolarczyk, G.B. Wiley, A. Rasmussen, J.M. Guthridge, J.A. James, R.H. Scofield, K.L. Sivils, I. Adrianto, Christopher J. Lessard;
OKLAHOMA CITY, United States

C22.4 Clonal myelopoiesis in the UK biobank cohort: somatic ASXL1 mutations are strongly associated with smoking history

Ahmed A.Z. Dawoud*, W.J. Tapper, N.C.P. Cross;
Southampton, United Kingdom

C22.5 A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

Egil Ferkingstad, M.K. Magnusson, S. Bell, A.S. Rigas, E. Allara, G. Bjornsdottir, A. Ramond, E. Sørensen, G.H. Halldorsson, D.S. Paul, K.S. Burgdorf, H.P. Eggertsson, S. Kristmundsdottir, W.J. Astle, C. Erikstrup, J.K. Sigurdsson, D. Vuckovic, V. Tragante, P. Surendran, B. Vidarsson, I. Jonsdottir, T. Hansen, O. Sigurdardottir, H. Stefansson, D. Rye, DBDS Genomic Consortium, J.E. Peters, D. Westergaard, H. Holm, N. Soranzo, K. Banasik, G. Thorleifsson, W.H. Ouwehand, U. Thorsteinsdottir, P. Sulem, A.S. Butterworth, D.F. Gudbjartsson, J. Danesh, S. Brunak, E. Di Angelantonio, H. Ullum, K. Stefansson;
Reykjavik, Iceland

C22.6 Identification of regulators of hematopoietic stem and progenitor cells in vivo in humans using population genetics

Aitzkoa Lopez de Lapuente Portilla, L. Ekhdal, C. Cafaro, Z. Ali, G. Thorleifsson, K. Zemaitis, N. Ugidos Damboriena, E. Johnsson, G. Norddahl, U. Thorsteinsdottir, J. Larsson, K. Stefansson, B. Nilsson;
Lund, Sweden

Chairs:  tba
Room:   A4

C23.1 Helping very young children understand inherited cancer predisposition syndromes using bibliotherapy

G. Schlub, A. Crook, J. Fleming, Kristine Barlow-Stewart, J. Kirk, K. Tucker, S. Greening;
Sydney, Australia

C23.2 Towards personalized genetic counselling: exploring subgroups among counselees based on different facets of empowerment before the first visit

Jan Voorwinden*, E. Birnie, M. Plantinga, M. Ausems, N. Knoers, M. Velthuizen, A. Lucassen, I. van Langen, A. Ranchor;
Groningen, Netherlands

C23.3 Exploring patient deliberation prior to predictive genetic testing in the absence of immediate clinical utility

Lisa M. Ballard, S. Doheny, A.M. Lucassen, A.J. Clarke;
Southampton, United Kingdom

C23.4 Negotiating autonomy and interdependence with family: how young people and health professionals navigate genetic testing for Li-Fraumeni syndrome

Rowan Forbes Shepherd*, L.A. Keogh, A.V. Werner-Lin, M.B. Delatycki, L.E. Forrest;
Melbourne, Australia

C23.5 Exploring the Post-result Informational Needs of BRCA1/2 Carriers: An Age Stratifying In-depth Qualitative Study

Jeanette Yuen*, S. Fung, C. Sia, T. Shaw, J. Ngeow;
Singapore, Singapore

C23.6 Improving the communication of genomics results to patients and families with rare diseases using Experience-Based Co-Design (EBCD)

A. Costa, Vera Frankova, E. Alexander, A. Arellanesová, V. Bros-Facer, J. Clayton-Smith, G. Gumus, M. Havlovicova, A. Hunter, M. Macek, A. Metcalfe, C. Patch, R. Pourová-Kremlíková, M. Pritchard, G. Robert, L. Roberts;
Prague, Czech Republic

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

More information will follow soon.

Chairs:   Sam Riedijk, Ramona Moldovan
Room:    Hall B

PL3.1  ELPAG Award Lecture

Heather Skirton;
United Kingdom

Room: A6+A7

Workshop Organisers:  Nicole de Leeuw, Erica Gerkes
Moderator: Zeynep Tümer

About the workshop:

The aim of this workshop is to focus on various aspects of copy number variant (CNV) interpretation and classification. We will talk about multi-, intra- and intergenic CNVs detected by genome wide array analysis, but also CNV detection in Whole Exome/Genome Sequencing data will be included. We will use illustrative cases from our own diagnostic laboratories to have an interactive discussion on the more challenging findings, including reduced-penetrant, recurrent CNVs, noncoding CNVs and structurally rearranged chromosomal imbalances as well as patients with compound heterozygous variants in a recessive disease gene.

14:15-14:20
Introduction
Zeynep Tümer, Kennedy Center, Rigshospitalet, Denmark

14:20-15:00
Broadening our diagnostic view on copy number variants
Nicole de Leeuw, University Medical Center Nijmegen, Netherlands

15:00-15:40
The (un)usual suspects
Erica Gerkes, University Medical Center Groningen, Netherlands

15:40-15:45
Summarizing conclusion
Zeynep Tümer

How to interact:

Participants are encouraged to send questions, comments or suggestions related to this topic by e-mail to Nicole.deLeeuw@radboudumc.nl before June 6, 2020. We will have an app-based feedback system available for this interactive session, so please bring your smart phone, tablet or laptop.

More information will follow in spring 2020.

Room: A3

Workshop Organiser:  Dieter Beule

About the workshop:

The workshop will discuss concepts and tools enabling more medical trained users in the analysis of whole exome variant data sets from individuals, families and cohorts. We will demonstrate how to efficiently filtrate and prioritize variants for different biomedical questions using inheritance, quality metrics, disease gene panels and phenotypic information and furthermore discuss data quality control as well as workflow validation.

How to interact:

We will integrate voting on delegate expectation, pre-existing knowledge, important uses cases, common pitfalls etc. through-out the workshop. Practical software demos will be part of the presentations, there will be ample time to ask questions to the presenters. Online test instances of the presented tools with suitable test data will be made available to the delegates.

Workshop speakers:

Introduction to the Workshop
Dieter Beule
Charité – Universitätsmedizin Berlin

Collaborative and Comprehensive Variant Analysis Platform for Translational Research (including demo of VarFish and SODAR software)
Manuel Holtgrewe
BIH Berlin

How to validate Whole Exome Diagnostics (including VarViz software demo)
Ben Liesfeld
Limbus Medical Technologies GmbH, Rostock

HPO-Based Search for Disease Mutations: Advantages, Drawbacks and Alternatives
Dominik Seelow
Charité – Universitätsmedizin Berlin

Using Panel App in Exome Anaylsis
Speaker to be announced

Room: A2

Workshop Organiser:  Michael Szpak

Interpreting genetic variation in clinical research using Ensembl: exploring Ensembl/GENCODE annotation, MANE transcripts and the Ensembl Variant Effect Predictor

About the workshop:

The Ensembl/GENCODE geneset (www.ensembl.org) of protein coding genes, pseudogenes and lncRNAs on the human and mouse genomes is produced by expert manual annotation. Recently, Ensembl has joined with NCBI’s RefSeq team to produce the Matched Annotation from NCBI and EMBL-EBI (MANE) transcript set.

The aim is to generate a genome-wide set that:
1) aligns to GRCh38,
2) includes pairs of 100% identical Ensembl/GENCODE (ENST) and RefSeq (NM) transcripts and
3) is well-supported.

We envision this dataset serving as a unified high-value reference set for consistent reporting of genetic variation as well as for comparative genomics and basic research. This workshop will take you through the annotation process for Ensembl/GENCODE and MANE, allowing you to experience the challenges and conflicts involved in annotation and transcript selection. You will use use Ensembl’s Transcript Archive tool (Tark) to explore comparisons of different isoforms, versions and database sources for transcripts. You will also learn to use the popular Ensembl Variant Effect Predictor (VEP) to map genetic variants onto Ensembl/GENCODE transcripts, determine their likely effects and filter to find candidate variants.

How to interact:

In order to participate in the hands-on aspects of this workshop, including voting on annotation choices, exploring tools to compare transcripts and exercises using the Ensembl VEP, you will need to bring a laptop or tablet to this session. This will involve group-based exercises and a quiz element, with prizes for the fastest people to identify the correct information.

Workshop speakers:

Michal Szpak, EMBL-EBI
Joannella Morales, EMBL-EBI
Adam Frankish, EMBL-EBI
Andrew Parton, EMBL-EBI
Jonathan Mudge, EMBL-EBI

Room: A1

Workshop Organisers:  Danya Vears, Gabriel Lazarin

About the workshop:

In this workshop, we propose to articulate challenges and innovative solutions to:

1) pre-test education and informed consent
2) results disclosure to patients
3) communication of results to family members

By including speakers with both a research and practical focus on genetic counselling and test delivery, we also aim to illuminate multiple approaches to addressing these. We will encourage critical analysis and discussion of these approaches to gain understanding of their effectiveness and replicability.

How to interact:

Three speakers will present 20-minute overviews of their experiences implementing tele-counselling, chat-bot information delivery, and web-based result delivery. Moderators will then lead an open-ended discussion soliciting audience perspectives on these technologies and key considerations for expanded usage.

Workshop speakers:

Irene van Langen, MD, PhD
University Medical Center of Groningen (Netherlands)

Dana Bradford, PhD
Australian E-Health Research Center (Australia)

Aishwarya Arjunan, MS
Myriad Women’s Health (United States)

Room: A5

Workshop Organiser:  Vivienne Parry

About the workshop:

You are an expert at talking to patients but can you communicate your science to the media? Or the public? With geneticists increasingly in demand to talk about genomics and its implications, BBCTV and radio presenter Vivienne Parry will unpack the tips and tricks you need to effectively reach mass audiences in this masterclass from one of the UK’s best known science communicators. She will be covering the practical stuff – like where to look and what not to wear – as well as taking a number of volunteers through mock interviews, with personal feedback on content, style and how to improve delivery and body language. Really useful, very good fun and just what you need.

Room: A4

Workshop Organisers:  Anton Nekrutenko, Marius van der Beek

About the workshop:

The goal of the workshop will be to demonstrate the utility of the Galaxy platform for analysis of large numbers of human samples. In this workshop we will use Galaxy and all currently available human metatransciptomic COVID-19 sequencing data to perform genomic analyses of human transcriptomic responses to the coronavirus infection.

This is will include:
– Identification of sequence variants in both host (diploid variant calling) and CODIV-19 (pooled calling)
– Analysis of transcriptome responses including the effect of COVID-19 on human unfolded protein response
– Analysis of coronavirus-related RIBOseq data
– Analysis of human Permanganate-seq data

The outcome of the workshop: Participants will learn how to use worldwide Galaxy instances to analyze multiple types of sequencing data including DNAseq, ChIPseq, RiboSeq, and RNAseq generated with Illumina, Oxford Nanopore, and Pacific Biosciences platforms.

How to interact:

This is a hands-on workshop. All participants are kindly requested to bring their own laptop/tablet.

Workshop speakers:

Anton Nekrutenko
Marius Van Den Beek

Chairs:  Joris Veltman, Teri Manolio
Room:   Hall B

S15.1 Polygenic risk scores in the clinic: Challenges and opportunities

Michael Inouye;
United Kingdom

S15.2 Polygenic Risk Scores, How to Use?

Marc Daly;
Finland

S15.3 Polygenic risk scores and their use in the clinic

Amit Khera;
United States

S15.4 Improving Polygenic Risk Scores for Clinical Applications

Krista Fischer;
Estonia

Chairs:  Martin Kircher
Room:   A8

S16.1 Detection of Structural Variation and Haplotype-Aware Genome Assembly

Tobias Marschall;
Germany

S16.2 Improving the Detection and Genotyping of Structural Variation

Birte Kehr;
Germany

S16.3 Annotation and Curation of High-Confidence Structural Variants

Aaron Quinlan;
United States

Chairs:  Doris Steinemann
Room:   A2

S17.1 Inherited Myeloid Malignancies

Lude Fitzgibbon;
United Kingdom

S17.2 Genetics and Mechanisms of Acute Lymphoblastic Leukemia

Adolfo Ferrando;
United States

S17.3 Somatic versus Germline Alterations in Leukemia

Cristina Mecucci;
Italy

Chairs:  Valerie Cormier-Daire
Room:   A5

S18.1 Cornelia de Lange Spectrum: does deep phenotyping help?

Feliciano Ramos;
Spain

S18.2 Genetic causes and overlapping mechanisms in the spectrum of Cornelia de Lange syndrome

Frank Kaiser;
Germany

S18.3 Post-Zygotic Mutation as a Cause of Typical Cornelia De Lange Syndrome

David FitzPatrick;
United Kingdom

Chairs:   Christian Gilissen
Room:    A3

E12.1 A Guide to Deep Learning in Healthcare

Mark DePristo;
United States

E12.2 A Guide to Deep Learning in Healthcare

Marcel Schulz;
Germany

Chairs:   Edward Dove
Room:    A1

E13.1 Mitochondrial replacement techniques: Exploring the biological consequences

Mary Herbert;
United Kingdom

E13.2 Should the UK’s Approach to MRT be Adopted in Other Countries?

César Palacios-González;
United Kingdom