Monday, June 172019-02-06T15:43:41+00:00

08:30 – 10:00 hrs | Concurrent Symposia S09-12 & Educational Sessions E09-E10

S09.1 4D Nucleome project

Sheng Zhong;
United States

S09.2 The architecture and mechanical properties of the nuclear lamina

Ohad Medalia;

S09.3 3D genome organisation in disease

Juanma Vaquerizas;

S10.1 From association to causal variant(s): statistical methods for finemapping

Christian Benner;

S10.2 Taking it further: trans-ethnic association analysis accounting for ancestry increases power for discovery and improves fine-mapping resolution

Andrew Morris;
United Kingdom

S10.3 Large scale integration of genetic and ‘omics’ data to find susceptibility genes for complex traits

Sara Pulit;

S11.1 De novo variants in neurodevelopmentals disorders with epilepsia

Johannes Lemke;

S11.2 Parental Mosaicism in “De Novo” Epileptic Encephalopathies

Heather Mefford;
United States

S11.3 Somatic mutations of the mTOR pathway in focal epilepsies

Stephanie Baulac;

S12.1 Genetic heterogeneity in CDG: where are the patients?

Gert Matthijs;

S12.2 CDG therapies

Eva Morava;
United States

S12.3 Link between Golgi ion homeostasis defects and Congenital Disorders of Glycosylation

Francois Foulquier;

E09.1 p53 mutational scanning

Eran Segal;

E09.2 Dissecting protein sequence function using Deep Mutational Scans

Lea Starita;
United States

E10.1 Title to be announced

Simon Myers;
United Kingdom

E10.2 Mutagenic recombination

Irene Tiemann-Boege;

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

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

11:15-12:45 hrs | Corporate Satellites

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

13:00 – 14:30 hrs | Concurrent Sessions C13-C18 from submitted abstracts

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

15:00-16:30 hrs | Workshops W12-W18

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

More information to follow.

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

More information to follow.

Workshop Organisers:  Asbjørg Stray-Pederson, Lucy Raymond

More information to follow.

Workshop Organisers:  Conxi Lazaro, Carla Oliveira

More information to follow.


Workshop Organisers:  Francesca Forzano, Marina Cornel

More information to follow.

Workshop Organiser:  Emily Perry

Programme overview:

The Ensembl Variant Effect Predictor (VEP) allows analysis of variants from sequencing experiments to determine the likely effect of the variants on genes, allowing for the prioritisation for further experiments. This workshop will familiarise the audience with general usage of the VEP, as well as two specialised use-cases: analysis of a short list of variants from GWAS to identify likely indirect effects on genes and analysis of genome-wide data to identify variants likely to cause rare disease. Participants who bring their own laptops will have a chance to try out using the VEP online, as well as run VEP jobs using the script, by downloading Docker images.


Emily Perry, Ensembl Outreach Project Leader
Irina Armean, Ensembl Variation Bioinformatician

Workshop Organisers:  Vita Dolzan, Volker Lauschke, Andrea Gaedigk

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15:00-16:30 hrs | Corporate Satellites

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

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

17:45 – 19:15 hrs | Concurrent Symposia S13-S16 & Educational Sessions E11-E12

S13.1 Understanding mutational processes

Abel González-Pérez;

S13.2 Finding a germline mutation during tumor testing: implications for the patient and the family

Jeffrey Weitzel;
United States

S13.3 Liquid biopsy to follow clonal evolution in cancer

Benedetta Mussolin;

S14.1 Introduction

Vivienne Parry;
United Kingdom

S14.2 Genetics and Social Media

Ellen Matloff;
United States

S14.3 CRISPR Babies:  Our Cells/Ourselves

Francoise Baylis;

S15.1 Enhancer Logic and Mechanics in Development and Disease.

Ali Shilatifard;
United States

S15.2 Regulation of disease-associated gene expression in the 3D genome

Wouter De Laat;

S15.3 Identifying DNA-regulatory elements in non-traditional model systems

David Garfield;

S16.1 Partitioning complex trait heritability into functional and tissue-specific categories using LD score regression

Hilary Finucane;
United States

S16.2 Genetic instruments in mendelian randomization studies

George Davey-Smith;
United Kingdom

S16.3 Large-scale inference of human genetic data

Manuel Rivas;
United States

E11.1  The landscape of genomic alteration across childhood cancers

Natalie Jäger ; Germany

E11.2 Rapid NGS for children in intensive care units

Lucy Raymond ; United Kingdom

E12.1 Systematic analysis of genetic interactions: from yeast to human

Jolanda Van Leeuwen;

E12.2 Epistasis in Cardiac defects

Bart Loeys;

19:15-20:45 hrs | Corporate Satellites

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