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;
Switzerland
S09.3 3D genome organisation in disease
Juanma Vaquerizas;
Germany
S10.1 From association to causal variant(s): statistical methods for finemapping
Christian Benner;
Finland
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;
Netherlands
S11.1 De novo variants in neurodevelopmentals disorders with epilepsia
Johannes Lemke;
Germany
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;
France
S12.1 Genetic heterogeneity in CDG: where are the patients?
Gert Matthijs;
Belgium
S12.2 CDG therapies
Eva Morava;
United States
S12.3 Link between Golgi ion homeostasis defects and Congenital Disorders of Glycosylation
Francois Foulquier;
France
E09.1 p53 mutational scanning
Eran Segal;
Israel
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;
Austria
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
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.
Speakers:
Emily Perry, Ensembl Outreach Project Leader
Irina Armean, Ensembl Variation Bioinformatician
Workshop Organisers: Vita Dolzan, Volker Lauschke, Andrea Gaedigk
More information to follow.
15:00-16:30 hrs | Corporate Satellites
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;
Spain
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;
Italy
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;
Canada
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;
Netherlands
S15.3 Identifying DNA-regulatory elements in non-traditional model systems
David Garfield;
Germany
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;
Switzerland
E12.2 Epistasis in Cardiac defects
Bart Loeys;
Belgium