Sunday, June 162019-04-16T12:14:22+00:00

08:30 – 10:00 hrs | Concurrent Symposia S01-04 & Educational Sessions E05-E06

Chairs:   Ramona Moldovan, Enza Maria Valente
Room:    Hall C

S01.1 Common and rare variants in psychiatric disorders

James Walters;
United Kingdom

S01.2 Structural variations in psychiatric disorders

Jonathan Sebat;
United States

S01.3 Updates in clinical applications of psychiatric genetics

Jehannine Austin;

Chairs:   Jose Luis Costa, Hildegunn Vetti
Room:    F1+F2+F3

S02.1 Tumour supressor function restoration: role in tumour reversion and response to treatment

Scott Lowe;
United States

S02.2 Myc in Cancer: targeting an engine, not a driver

Gerard Evan;
United Kingdom

S02.3 Immunotherapy in cancer

Karine Serre;

Chairs:   Siren Bergland, Elfride de Baere
Room:    G2+G3

S03.1 Minor spliceosome and disease

Mikko Frilander;

S03.2 RNA mis-splicing in disease

Maurice Swanson;
United States

S03.3 Restoring splicing defects by antisense oligonucleotide therapy

Rob Collin;

Chairs:   Jens Michael Hertz, Charlotte van der Lippe
Room:    K1

S04.1 Update on polycystic kidney disease

Carsten Bergmann;

S04.2 Nephrotic Syndrome

Corinne Antignac;

S04.3 The future of Kidney care

Benjamin Freedman;
United States

Chair:   Zeynep Tümer
Room:  K2+K3

E05.1 Title to be announced

Mike Talkowski;
United States

E05.2 Delineating the structure of chromosome rearrangements using multiple WGS technologies

Anna Lindstrand;

Chair:   Vita Dolzan
Room:  F4+F5

E06.1 Integrating pharmacogenomics into personalized drug treatment

Magnus Ingelman-Sundberg;

E06.2 Pharmacogenomics based personalized drug treatment across world populations

Andrea Gaedigk;
United States

10:00 – 10:30 hrs | Coffee Break, Exhibition, Poster Viewing

10:15 – 11:15 hrs | Poster Viewing with Authors – Group A

11:15 – 12:45 hrs | Corporate Satellites

More information

11:15 – 12:45 hrs | Lunch Break, Exhibition, Poster Viewing

13:00 – 14:30 hrs | Concurrent Sessions C07-C12 from submitted abstracts

Chairs:   Heidi Marjonen, Reiner V. Veitia
Room:    Hall C

C08.1 Increased risk at first trimester screening: trisomies are not everything, but the risk for an atypical chromosome aberration is low. Experiences from the Swedish Pregnancy Register

Erik Iwarsson, P. Conner;
Stockholm, Sweden

C08.2 The PREGCARE study: precision genetic counselling via personalised evaluation of recurrence risk for families with a child affected by a disorder caused by a de novo mutation

Ummi B. Abdullah*, M. Bernkopf, N. Koelling, S.J. McGowan, J. Williams, A.H. Németh, H. Stewart, P. Clouston, A.O.M. Wilkie, A. Goriely;
Oxford, United Kingdom

C08.3 Validation of simultaneous detection of fetal chromosome aneuploidy and monogenic diseases by a novel noninvasive prenatal testing method: Targeted And Genome-wide simultaneous sequencing (TAGs-seq)

Wang Yicong*, S. Zhang, L. Yang, D. Chen, Y. Gao, Y. Zhang, F. Chen;
Shenzhen, China

C08.4 Systematic evaluation of prenatal and pediatric diagnostic yields from whole-genome sequencing in 8,954 individuals

Chelsea Lowther*, H. Brand, B.B. Currall, J.L. Giordano, V.S. Aggarwal, H.Z. Whang, X. Zhao, D. Lucente, L. Margolin, D.M. Werling, J.Y. An, S. Dong, S.J. Sanders, B. Devlin, K. Gilmore, B. Powell, A. Brandt, A.H. O’Donnell-Luria, N.J. Lennon, D.B. Goldstein, H.L. Rehm, N.L. Vora, D.G. MacArthur, B. Levy, R. Wapner, M.E. Talkowski;
Boston, United States

C08.5 Non-invasive prenatal diagnosis of sickle cell disease by next generation sequencing of cell-free DNA

Julia C. van Campen*, L. Silcock, M. Yau, Y. Daniel, J.W. Ahn, C.M. Ogilvie, K. Mann, E. Oteng-Ntim;
London, United Kingdom

C08.6 Prevalence and clinical outcome of mosaicism in uncultured chorionic villus samplings after chromosomal microarray

Ida Charlotte Bay Lund, N. Becher, E. Vestergaard, R. Christensen, O. Petersen, E. Steffensen, I. Vogel;
Aarhus N., Denmark

Chairs:  Kristiina Aittomäki, Samuel Gebre-Medhin
Room:   K2+K3

C09.1 Germline genetic variation drives the somatic landscape of tumors

Noah Zaitlen, S. Mangul, A. Gusev;
LA, United States

C09.2 Germline TP53 mutations: the predominant genetic cause of adrenocortical carcinoma

Mariette Renaux-Petel, F. Charbonnier, I. Tournier, G. Lienard, J. Bou, E. Kasper, B. Leheup, L. Mansuy, L. Guerrini-Rousseau, L. Brugières, A. Liard-Zmuda, S. Baert-Desurmont, T. Frebourg, G. Bougeard;
Rouen, France

C09.3 Cell free-DNA pinpoints specific clonal expansion at disease progression in solid cancers

Maria Palmieri*, M. Baldassarri, F. Fava, A. Fabbiani, E. Gelli, R. Tita, P. Torre, R. Petrioli, T. Hadijstilianou, D. Galimberti, E. Cinotti, M. Mencarelli, A. Pinto, S. Marsili, E. Frullanti, A. Renieri;
Siena, Italy

C09.4 Molecular classification of B-other pediatric B-cell precursor acute lymphoblastic leukemia by DNA methylation and RNA-sequencing

Y. Marincevic-Zuniga, S. Nystedt, S. Nilsson, J. Almlöf, H. Lilljebjörn, T. Fioretos, T. Flaegstad, U. Norén-Nyström, M. Heyman, K. Schmiegelow, J. Kanerva, G. Lönnerholm, Jessica Nordlund;
Uppsala, Sweden

C09.5 Polygenic risk scores modify age-dependent breast cancer risk in CHEK2 germline mutation carriers

Julika Borde*, C. Ernst, K. Weber-Lassalle, D. Niederacher, J. Hauke, J. Horváth, N. Weber-Lassalle, A. Meindl, E. Pohl-Rescigno, N. Arnold, A. Lee, C. Engel, B. Wappenschmidt, M. Schmidt, A. Antoniou, R.K. Schmutzler, K. Kuchenbäcker, E. Hahnen;
Cologne, Germany

C09.6 Application of genomics and cognitive technology in precision oncological medicine

Isabel Sánchez Guiu, D. Cantalapiedra, V. Felipe-Ponce, S. Santillán, J. García, S. Lois, J. Triviño, R. Miñambres, B. Cortina, M. Vázquez San Antonio, C. Collado Micó, V. Fernández Pedrosa, C. Rodriguez-Antona, O. Calvete, A. Gonzalez Neira, C. Martínez-Laperche, I. Buño Bordeh, L. Rodríguez Rojas, A. Zambrano, J. Escobar, J. Falla, N. Tolaba, P. Bazzoni, M. Montero Alvi, E. de Álava, D. Azuara, J. Ruffinelli, M. Varela, E. Nadal, C. Lázaro, C. Moya, G. Ribas
Valencia, Spain

Chairs:  Birgitte Diness, Bart Loeys
Room:   F1+F2+F3

C10.1 Sequence variants associated with resistant hypertension implicate mechanisms affecting potassium levels

Vinicius Tragante, P. Sulem, G. Thorleifsson, M.L. Frigge, J.G. Arthur, F.W. Asselbergs, D.C. Crawford, A.M. Deaton, G.I. Eyjolfsson, S. Gretarsdottir, G.H. Halldorsson, A. Helgadottir, I. Jonsdottir, R.P. Kristjansson, P. Melsted, A. Oddson, I. Olafsson, R. Palsson, O. Sigurdardottir, E. Sigurdsson, J.K. Sigurdsson, G. Sveinbjornsson, G. Masson, D.O. Arnar, G. Thorgeirsson, U. Thorsteinsdottir, D.F. Gudbjartsson, H. Holm, K. Stefansson;
Reykjavik, Iceland

C10.2 Multi-omics approach identifies three novel genes for bicuspid aortic valve related aortopathy

Ilse Luyckx*, A.A. Kumar, E. Gillis, R.A. Gould, H. Aziz, C.E. Woods, M.A. Seman-Senderos, G. MacCarrick, E. Sparks, A.S. MacCallion, L. Van Laer, H.C. Dietz, A. Verstraeten, B.L. Loeys;
Edegem, Belgium

C10.3 Investigating atherosclerosis progression through single-cell transcriptional profiling of immune cells of the atherosclerotic plaque

Ambra Sartori*, K. Thanopoulou, C. Borel, M. Manioudaki, I. Galani, E. Andreakos, E.T. Dermitzakis;
Geneva, Switzerland

C10.4 Metabolomic profiling of ANGPTL3 deficiency

Emmi Tikkanen, P. Würtz;
Helsinki, Finland

C10.5 The Future is Now: Genomic Studies Must be Globally Representative

G.L. Wojcik, M. Graff, K. Nishimura, R. Tao, J. Haessler, C.R. Gignoux, H.M. Highland, Y.M. Patel, S.A. Bien, S. Buyske, C. Haiman, C. Kooperberg, L. Le Marchand, R.J.F. Loos, T.C. Matise, U. Peters, E.E. Kenny, C.S. Carlson, Kari E. North;
Chapel Hill, United States

C10.6 Genetics of human plasmalipidome and its link to cardiovascular diseases

Rubina Tabassum, J.T. Rämö, P. Ripatti, J.T. Koskela, M. Kurki, J. Karjalainen, S. Hassan, J. Nunez-Fontarnau, T.T. Kiiskinen, S. Soderlund, N. Matikainen, M.J. Gerl, M.A. Surma, C. Klose, N.O. Stitziel, H. Laivuori, A.S. Havulinna, S.K. Service, V. Salomaa, M. Pirinen, F. Project, M. Jauhiainen, M.J. Daly, N.B. Freimer, A. Palotie, M. Taskinen, K. Simons, S. Ripatti;
Helsinki, Finland

Chairs:  Eleonora Porcu, Eava Sliz
Room:   F4+F5

C11.1 Maximum likelihood method quantifies the overall contribution of gene-environment interaction to complex traits: an application to obesity traits

J. Sulc, N. Mounier, T. Winkler, A. Wood, T. Frayling, I.M. Heid, M.R. Robinson, Zoltan Kutalik;
Lausanne, Switzerland

C11.2 Leveraging correlated risks to increase power in Genome-Wide Association Studies

Ninon Mounier*, P.R.H.J. Timmers, J.F. Wilson, P.K. Joshi, Z. Kutalik;
Lausanne, Switzerland

C11.3 One and a half million genome wide-association studies of brain morphometry: a proof-of-concept study

G. Roshchupkin, M.A. Ikram, K. Wittfeld, M. Zwiers, N. Jahanshad, A. Teumer, P. Thompson, B. Franke, H. Grabe, W. Niessen, Hieab H.H. Adams*;
Rotterdam, Netherlands

C11.4 Genome-wide copy number variant association study reveals several novel disease-associated loci

Maarja Lepamets*, K. Lepik, Z. Kutalik, R. Mägi;
Tartu, Estonia

C11.5 Fine-scale population structure and demographic change through time and space in the Netherlands

Ross P. Byrne*, W. van Rheenen, L.H. van den Berg, J.H. Veldink, R.L. McLaughlin;
Dublin, Ireland

C11.6 The landscape of pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases

Marie Verbanck, D.M. Jordan, R. Do;
New York, United States

Chairs:  Ilaria Parenti, Cecilie Rustad
Room:   G2+G3

C12.1 Phenotypic spectrum of novel intellectual disability syndrome due to de novo variants in KMT2E

Anne O’Donnell-Luria, L.S. Pais, V. Faundes, KMT2E Consortium, X. Soto, N. Papalopulu, S. Banka, L.H. Rodan;
Boston, United States

C12.2 CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D.H. Konrad*, N. Nardini, M. Blyth, K. Prescott, A.M. Bouman, E.H. Brilstra, A. Caliebe, R. Ibitoye, V.Y. Chang, A. Gupta, G. Le Guyader, R.A. Jamra, K. Platzer, M.C.J. Jongmans, A. Kenney, M. Kempers, R. Pfundt, D. Khattar, O. Kuismin, E. Legius, K.D. Lichtenbelt, T.J. Maarup, M. McEntagart, K. Õunap, M.E. Pierpont, S.L. Santoro, H.M. Schnelle, E. Fassi, D. Young, A. Ziegler, Deciphering Developmental Disorders (DDD) study, A. Gregor, H. Van Esch, C. Zweier;
Erlangen, Germany

C12.3 De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

Lot Snijders Blok*, T. Kleefstra, H. Venselaar, S. Maas, H.Y. Kroes, A.M.A. Lachmeijer, K.L.I. van Gassen, H.V. Firth, S. Tomkins, S. Bodek, t. DDD study, K. Õunap, M. Wojcik, C. Cunniff, K. Bergstrom, Z. Powis, S. Tang, D.N. Shinde, C. Au, A.D. Iglesias, K. Izumi, J. Leonard, A.A. Tayyoun, S.W. Baker, M. Tartaglia, M. Niceta, M.L. Dentici, N. Okamoto, N. Miyake, N. Matsumoto, A. Vitobello, L. Faivre, C. Philippe, C. Gilissen, L. van de Wiel, R. Pfundt, P. Deriziotis, H.G. Brunner, S.E. Fisher;
Nijmegen, Netherlands

C12.4 De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies

Konrad Platzer, H. Sticht, S.L. Edwards, W. Allen, K.M. Angione, M.T. Bonati, C. Brasington, M.T. Cho, L.A. Demmer, T. Falik-Zaccai, C.N. Gamble, Y. Hellenbroich, M. Iascone, F. Kok, S. Mahida, H. Mandel, T. Marquardt, K. McWalter, B. Panis, A. Pepler, H. Pinz, L. Ramos, D.N. Shinde, C. Smith-Hicks, A.P.A. Stegmann, P. Stöbe, C.T.R.M. Stumpel, C. Wilson, J.R. Lemke, N. Di Donato, K.G. Miller, R. Abou Jamra;
Leipzig, Germany

C12.5 Defective DNA polymerase a-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly and hypogonadism.

Hilde Van Esch, R. Colnaghi, K. Freson, P. Starokadomskyy, A. Zankl, L. Backx, I. Abramowicz, E. Outwin, L. Rohena, C. Faulkner, G. Leong, R. Newbury-Ecob, R. Challis, K. Ounap, P. Witters, E. Seuntjens, K. Devriendt, E. Burstein, K. Low, M. O’Driscoll;
LEUVEN, Belgium

C12.6 Non-penetrance of a frameshifting SHANK3 deletion is associated with compensatory mechanisms in both alleles

Bjørn Ivar Haukanes, T. Nordtveit, G. Houge;
Bergen, Norway

Chairs:  Stein Bergan, Johan den Dunnen
Room:   K1

C13.1 Metabolomic consequences of PCSK9 inhibition compared with statin therapy

Peter Würtz, S. Ruosaari;
Helsinki, Finland

C13.2 Longitudinal analysis of the gut microbiome reveals dynamic changes in relation to medications & phenotypes

Lianmin Chen*, S. Garmaeva, A. Kurilshikov, R. Gacesa, A. Vich Vila, R. Weersma, C. Wijmenga, A. Zhernakova, J. Fu;
Groningen, Netherlands

C13.3 Lifelong genetically lowered sclerostin and risk of cardiovascular disease

Jonas Bovijn*, K. Krebs, C. Chen, R. Boxall, J.C. Censin, T. Ferreira, S.L. Pulit, C.A. Glastonbury, S. Laber, I.Y. Millwood, K. Lin, L. Li, Z. Chen, L. Milani, R.G. Walters, R. Mägi, B.M. Neale, C.M. Lindgren, M.V. Holmes;
Oxford, United Kingdom

C13.4 Advanced renal cancer patients with tumor KDM5C mutations show improved response to anti-angiogenic therapy

Maria Santos*, J. Roldan-Romero, J. Lanillos, F. García, B. Calsina, M. Pulgarín, Á. Martínez, R. Letón, C. Montero-Conde, A. Cascón, M. Robledo, B. Beuselinck, J. García-Donas, C. Rodríguez-Antona;
Madrid, Spain

C13.5 Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

Henrike O. Heyne*, S. Iqbal, D. Palmer, K. Johannesen, J. Lemke, H. Lerche, P. May, R.S. Moeller, E. Perez, U. Scholl, S. Syrbe, A.J. Campbell, D. Lal, H. Wang, M.J. Daly;
Cambridge, United States

C13.6 Taurine supplementation as a potential therapy for progressive retinal degeneration due to biallelic pathogenic variants in the Taurine transporter SLC6A6

Emmanuelle Ranza, M. Ansar, M. Shetty, S.A. Paracha, M.T. Sarwar, I. Kern, O. Farooq, C.J. Pournaras, A. Malcles, F.A. Santoni, P. Makrythanasis, J. Ahmed, K. Henry, S.E. Antonarakis;
Geneva, Switzerland

Chairs:   Kinga Hadzsiev, Rhona Macleod
Room:    H2

C14.1 Effect of genetic counseling on adherence to psychotropic medication in people with serious mental illness

Jehannine Austin, E. Morris, R. Batallones, P. Carrion, C. Slomp, J. Ryan, A. Albert;
Vancouver, Canada

C14.2 Psychiatric Genetic Counselling: Efficacy of training and implications for practice

Kevin A. McGhee, M. Watson, A. Inglis, E. Morris, R. Moldovan, J.C. Austin;
POOLE, United Kingdom

C14.3 Large scale group genetic counselling: a novel service delivery model

Z. Lohn, Jennifer Nuk, A. Fok, M. Richardson, S. Mung, J. Yuson, M. Jevon, K. Schrader, S. Sun;
Vancouver, Canada

C14.4 Genetic counselling experience in Iceland of web-based return of BRCA2 research results

Vigdís Stefansdottir, E.T. Thorolfsdottir, B.B. Gunnarsdottir, A. Ulfarsdottir, T. Jonsdottir, H.B. Hognason, J.J. Jonsson;
Reykjavik, Iceland

C14.5 The making of the BRCA-chatbot – A patient centered digital counselling tool to support individuals undergoing genetic testing for hereditary breast and ovarian cancer

Elen Siglen, H. Høberg-Vetti, M. Tveit Haavind, V. Steen, A. Hamang, S. Tronsli Nergård, N. Strømsvik, T. Akselberg Hatlebrekke, H. Skarbø, C. Bjorvatn;
Bergen, Norway

C14.6 myKinMatters intervention: developing an online intervention to support patients in communicating relevant health information to at-risk relatives

Lisa M. Ballard, A. Fenwick, A.M. Lucassen;
Southampton, United Kingdom

Chairs:   Joris Veltman, Alexandre Reymond
Room:    Live Stream Area (Exhibition Hall)

Gastrointestinal dysfunction in autism spectrum disorder: New insights from the Foxp1+/-mouse with altered gut motility and achalasia

H. Fröhlich, M. Kollmeyer, M. Stuhlinger, V. Linz, D. Groneberg, A. Reigl, E. Zizer, A. Friebe, B. Niesler, G. Rappold
Heidelberg, Germany

Identification and characterization of microRNA-149, a candidate for orofacial clefting.

Ronja Hollstein*, L.G. Stüssel, M. Laugsch, F. Haeberlein, L.M. Hochfeld, J. Welzenbach, J. Schröder, F. Thieme, A. Heimbach, T. Hess, J. Gehlen, S. Heilmann-Heimbach, E. Mangold, A. Rada-Iglesias, B. Odermatt, K.U. Ludwig;
Bonn, Germany

High-throughput metabolomics for early detection of individuals at increased risk for type 2 diabetes

Jenni Hällfors, S. Ruosaari, P. Würtz;
Helsinki, Finland

Increasing fetal hemoglobin by genetic editing the cells of sickle cell disease patients

S. Jalil, Y. Novik, R. Maldonado, D. Balboa, T. Otonkoski, U. Wartiovaara-Kautto, Kirmo Wartiovaara;
Helsinki, Finland

Anorexia nervosa genome-wide association study identifies eight loci and implicates psychiatric and metabolic origins

Christopher Hübel*, H.J. Watson, Z. Yilmaz, Eating Disorders Working Group Psychiatric Genomics Consortium, M. Landén, N.G. Martin, P. Mortensen, P.F. Sullivan, G. Breen, C.M. Bulik;
Stockholm, Sweden

Characterizing cellular heterogeneity of de novo mutations in autism spectrum disorders

Abdulrahman Y. Ali*, B. Samara, N.K. Al Jezawi, G. Begum, K.M.F. Uddin, H. Akter, M. Basiruzzaman, Y. Idaghdour, M. Woodbury-Smith, A. AlBanna, M. Uddin;
Dubai, United Arab Emirates

Analysis of DNA tandem repeats in ALS from Whole Genome Sequencing : Role of FRA10Ac1 gene repeat expansion in ALS

Lucia Corrado, L. Genovese, E. Mangano, R. Croce, A. Di Pierro, F. Geraci, R. Bordoni, R. D’Aurizio, N. Barizzone, F. De Marchi, L. Mazzini, G. De Bellis, G. Manzini, M. Severgnini, M. Pellegrini, S. D’Alfonso;
NOvara, Italy

Gain-of-function mutations in KCNN3 encoding the small-conductance Ca2+-activated K+ channel SK3 cause Zimmermann-Laband syndrome

C. K. Bauer, P. E. Schneeberger*, F. Kortüm, J. Altmüller, F. Santos-Simarro, L. Baker, J. Keller-Ramey, S. M. White, P. M. Campeau, K. W. Gripp, K. Kutsche;
Hamburg, Germany

Variants with reduced variant fractions in NGS-based germline diagnostics for hereditary breast and ovarian cancer

Mirjam Larsen, K. Keupp, K. Weber-Lassalle, L. Bülow, B. Bluemcke, B. Versmold, A. Waha, J. Driesen, A. Baasner, C. Eßer, B. Schömig-Markiefka, B. Wappenschmidt, R. Schmutzler, E. Hahnen, E. Pohl-Rescigno;
Cologne, Germany

LOY Associated Transcriptional Effect (LATE) in immune cells measured by single cell RNAseq and bulk RNAseq

Jonas Mattisson, J. Halvardson, B. Torabi Moghadam, M. Danielsson, H. Davies, J. Dumanski, L.A. Forsberg;
Uppsala, Sweden

Gabriella Miller Kids First Data Resource Center: Harmonizing genomic and clinical information to support childhood cancer and structural birth defect research

Yiran Guo, A.P. Heath, P. Raman, Y. Zhu, J. Lilly, D.M. Taylor, P.B. Storm, A.J. Waanders, V. Ferretti, M. Mattioni, B. Davis-Dusenbery, Z.L. Flamig, R.L. Grossman, S.L. Volchenboum, S. Mueller, J. Nazarian, N. Vasilevsky, M. Haendel, A. Resnick;
Phiadelphia, United States

Genetic dysregulation of gene expression and splicing during a ten-year period of human aging

Brunilda Balliu*, M. Durrant, O. de Goede, N. Abell, X. Li, B. Liu, M. Gloudemans, N. Cook, K. Smith, M. Pala, F. Cucca, D. Schlessinger, S. Jaiswal, C. Sabatti, L. Lind, E. Ingelsson, S.B. Montgomery;
Los Angeles, United States

An integrated chromatin accessibility and transcriptome landscape of human pre- and post-implantation embryos

Zhouchun Shang, L. Liu, L. Leng, C. Liu, Y. Yuan, X. Dai, Q. Wang, S. Wang, F. Chen;
Shenzhen, China

Disease interpretation of regulatory variants with GeneHancer

Simon Fishilevich*, R. Barshir, M. Twik, I. Bahir, T. Iny Stein, M. Safran, D. Lancet;
Rehovot, Israel

The genetics of sleep traits and their links with disease

Samuel E. Jones, J.M. Lane, H.S. Dashti, V.T. van Hees, H. Wang, A.R. Wood, R.N. Beaumont, J. Tyrrell, D.A. Lawlor, T.M. Frayling, M.K. Rutter, R. Saxena, M.N. Weedon;
Exeter, United Kingdom

14:30 – 15:00 hrs | Fruit Break, Exhibition, Poster Viewing

15:00 – 16:30 hrs | Workshops W05-W11

Room:  Hall C

Workshop Organiser:  Christian Gilissen, Kaitlin Samocha

About the workshop:

Although exome sequencing is now routinely available both for research and clinical purposes, the interpretation of identified variants remains a major challenge. In this workshop we will address the available public bioinformatics resources that can help in interpreting variants from exome sequencing, and illustrate their importance by real-life examples.

Programme overview:

Welcome and opening remarks
Christian Gilissen

Using gnomAD for variant interpretation
Kaitlin Samocha

Predicting the effect of splicesite variants
Jeremy McRae

Variant Interpretation using protein structure and interactions
James Stephenson

Analysis of CNVs from exome data
Rolph Pfundt

Room:  K2+K3

Workshop Organisers:  Jilly Clayton-Smith, Sofia Douzgou, Dian Donnai

About the workshop:

We invite all those working in the field of syndrome diagnosis, and those who wish to learn more about the art and science of Dysmorphology, to attend this session. Please participate by bringing along short PowerPoint presentations of your distinctive unsolved cases or your instructive solved cases to one of the two Dysmorphology workshops. Even if you do not have cases to bring, we also encourage workshop attendees to share their knowledge of dysmorphology and broader genetic mechanisms by participation in the case discussions. As we move further into the genomic era we anticipate more discussion around variant interpretation and so we would also welcome experts in this area to join us.

We also welcome “solved” cases that you may have presented as unknowns at the ESHG in previous years, but where you now have an answer. These are very interesting and instructive for the audience.

Presentation Format:

Presentations should include no more than 6 slides and you should aim to present your case in 3 minutes, leaving some time for discussion.  Slides should cover the main points of the history, include good quality clinical photos of the most distinctive features and give results of investigations undertaken. Although we do not necessarily expect every patient to have had whole genome or exome sequencing, cases must have undergone a reasonable diagnostic workup before presentation and permission should have been sought from patients/parents for presentation.

Please being your presentations on a memory stick to the respective lecture hall 30 minutes before the sessions begin to book your place for presentation.

We look forward to seeing you!

Room: F1+F2+F3

Workshop Organiser:  Bob Kuhn

About the workshop:

The UCSC Genome Browser continues to expand its feature set and data. The workshop will describe our representation of pre-computed CRISPR guides (including off-target locations), the Genome Aggregation Database (gnomAD) and new data formats:

1) interact, for display of physical interaction data (e.g., 5C, Hi-C) or conceptual relationships (e.g., enhancers)
2) barChart, for aggregating data from multiple experiments into a simple, single display

The new Track Collection feature allows multiple RNA-seq datasets to be configured together, to be superimposed on a single axis and to be subtracted on the fly to show the difference between two datasets.

Learning outcome:

Delegates will be directed to Shared Sessions they can quickly load on their laptops. Connecting with these pre-configured views of the new CRISPR and gnomAD data will enable live dynamic interaction with the data during the meeting, and enable the easy return to these resources later. Participants will find and interpret pre-computed CRISPR data across the entire exome, including links to all off-site targets with up to 4 bases of mismatch to the intended guide.

Online data examples of the new interact and barChart formats will serve as raw matereial for delegates to modify input and use their own changes to explore data formats in real time. Participants will use the new Track Collection functionality and to carry out operations on RNA-seq data, including co-display on a single axis and subtraction.

Interactive elements:

Delegates will actively load data into the Genome Browser and save the resulting sessions in an archive for easy future retrieval. Delegates will modify custom track data in the interact and barChart formats and observe the results in uploaded Browser tracks. Delegates will save sessions of their modified data and use their saved sessions to share with the rest of the audience. Collectively, we will ascertain the functionof the various dasta fields.

Room:  F4+F5

Workshop Organisers:  Laura Harris, Daniel Suveges

About the workshop:

Our workshop will cover an introduction to the GWAS Catalog, including the scientific background, the web-based search tools, and programmatic access via our RESTful API.

We will include hands-on demonstrations covering different methods for accessing GWAS Catalog data, focusing on the most common use-cases. Participants who bring their own laptops will have a chance to try out the GWAS Catalog online; those wishing to try out the API during the session must have a modern browser such as Chrome or Firefox installed, and may find it useful to have a command line interface (e.g. Unix terminal).

Following the session, attendees will (1) understand the type and scope of data contained in the GWAS Catalog (2) be able to use web-based tools to explore and visualise GWAS Catalog data (3) understand how to perform programmatic queries to search and access GWAS Catalog data.

There will be ample time to ask questions of the GWAS Catalog team.

Workshop Speakers:

Laura Harris, Scientific Curator
Daniel Suveges, Bioinformatician
Jackie MacArthur, Project Lead

Room: G2+G3


Workshop Organiser:  Rhona Macleod

About the workshop:

This workshop will explore psychotherapeutic elements in genetic counseling casework that highlight Dr. Seymour Kessler’s clinical scholarship. Attendees will learn about addressing patient suffering; distinctions between shame and guilt, when to execute personal scrutiny, transference and counter-transference, and family transitions. We will discuss the role of the genetic counselor regarding end of life options for those affected with neurodegenerative disease.

Attendees are asked to bring their genetic counseling cases to the workshop, with two slides that include: a pedigree and information key to the discussion. Cases that illustrate concepts in Dr. Kessler’s writings that address meeting the needs of our clients will be selected for discussion. Delegates will be asked to present the case for deliberation among the workshop attendees, followed by commentary from the speakers.

We invite attendees wishing to present a case to contact the workshop organisers:;

We hope this will be an opportunity to reflect on the impact of Dr Kessler’s  writing and psychological insights on our way of working with families.

Workshop Speakers: 

Barbara Biesecker, PhD, MS, Genetic Counselor and Distinguished Fellow, RTI International
Aad Tibben, PhD, Psychotherapist and Professor emeritus, University of Leiden

Room:  K1

Workshop Organisers:  Alexandre Reymond, Elfride De Baere

More information to follow.

Room:  H2

Workshop Organisers:  Robert Hofstra, Julie McGaughran

Moderation: Roy Sheppard

More information to follow.

15:00 – 16:30 hrs | Corporate Satellites

More information

16:30 – 17:00 hrs | Coffee Break, Exhibition, Poster Viewing

16:45 – 17:45 hrs | Poster Viewing with Authors – Group B

17:45 – 19:15 hrs | Concurrent Symposia S05-08 & Educational Sessions E08-E09

Chairs:  Malte Spielmann, Kirmo Wartiovaara
Room:   Hall C

S05.1 CRISPR single-cell sequencing: Toward functional biology in high throughput

Christoph Bock;

S05.2 Therapeutic applications of genome editing to prevent diseases

Kiran Musunuru;
United States

S05.3 Advances in therapeutic CRISPR/Cas9 genome editing

Gerald Schwank;


Chairs:  Charlotta Ingvoldstad Malmgren, Celine Lewis
Room:   F1+F2+F3

S06.1 Current understanding of psychiatric genetics research and services amongst mental health service users and their families

David Crepaz-Keay;
United Kingdom

S06.2 Can genomic profiling improve risk reducing behaviour?

Nadeem Qureshi;
United Kingdom

S06.3 What will this genetic result mean for my baby?

Lidewij Henneman;

Chairs:   Anders Børglum, Franke Lude
Room:   G2+G3

S07.1 Polygenic risk scores in genetic epidemiology

Krista Fisher;

S07.2 Polygenic risk scores in cardiovascular disease

Samuli Ripatti;

S07.3 Polygenic risk scores in prostate cancer

Rosalind Eeles;
United Kingdom

Chairs:   Maris Laan, Anna Lindstrand
Room:    K1

S08.1 YY1: an enduring repressor of L1 retrotransposition during human neurodevelopment

Geoffrey J. Faulkner;

S08.2 Alu elements and cellular RNA metabolism

Lynne E. Maquat;
United States

S08.3 Insertion variants at disease risk loci

Kathleen H. Burns;
United States

Chairs:  tba
Room:   K2+K3

E07.1 Single cell heterogeneity in human brain and its relation to neurodegenerative diseases

Raheleh Rahbari;
United Kingdom

E07.2 Single cell RNA sequencing in psychiatric disorders

Jens Hjerling Leffler;

Chairs:  Yasemin Alanay
Room:   F4+F5

E08.1 Loss of chromosome Y: From discovery to impact

Lars Forsberg;

E08.2 Chromosome Y and the ageing genome

Mitchell Machiela;
United States

19:15-20:45 hrs | Corporate Satellites

More information

19:30 – 20:30 hrs | ESHG Membership Meeting