VarI community of special interest

VarI COSI 2019

What: Variant Interpretation Session ISMB/ECCB Conference 2019
When: 10:15 AM - 6:00 PM, July 24th, 2019
Where: Room Montreal (2nd Floor), Congress Center, Basel (Switzerland).

Session 1

10:15 - 10:20

Welcome from the committee

10:20 - 11:00

Invited Speaker: Laura Furlong. Hospital del Mar Medical Research Institute, Barcelona (Spain).
The DisGeNET platform of disease genomics to support variant interpretation.

11:00 - 11:20

James Stephenson. ENBL-EBI, Hinxton, (United Kingdom).
Enrichment and Clustering of Rare Genetic Variants using Shared Protein Structure Domains.

11:20 - 11:40

Lambert Moyon. Ecole Normale Superieure, Paris (France).
Annotation and prioritization of non-coding variants in the context of human diseases.

11:40 - 12:00

Alexander Gress. Helmholtz Centre for Infection Research, Saarbrucken (Germany).
The importance of being unbiased: why protein structure and training setup are important for predicting novel pathogenic genetic variants.

12:00 - 12:20

Alexandre Renaux. Universite Libre de Bruxelles, Bruxelles (Belgium).
Towards oligogenic disease prediction with ORVAL: a web-platform to uncover pathogenic variant combinations.

12:20 - 12:30

Jun Cheng. Technical University of Munich, Munich (Germany).
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing.

12:30 - 12:40

Saikat Banerjee. Max Planck Institute for Biophysical Chemistry, Gottingen (Germany).
Bayesian multiple logistic regression for case-control GWAS.

12:40 - 14:00

Lunch Break and Online Posters.

Session 2

14:05 - 14:45

Invited Speaker: Janet Kelso. Max Planck Institute for Evolutionary Anthropology, Leipzig (Germany).
What ancient humans can teach us about modern genetic variation.

14:45 - 15:05

Shaojie Zhang. University of Central Florida, Orlando (FL).
Efficient haplotype matching between a query and a panel for genealogical search.

15:05 - 15:25

Daniel Carlin. University of California, San Diego (CA).
A fast and flexible framework for network assisted genomic association.

15:25 - 15:45

Erwin Frise Fabric Genomics, Oakland (CA).
An Artificial Intelligence Engine for High-Throughput ACMG/AMP Classification of Genetic Variants for Inherited Disease Clinical Gene Panels

15:45 - 16:00

Company Presentation: Alexander Kaplun - Variantyx.
Whole Genome Sequencing (WGS) as a first-line diagnostic test: Its success is in the details.

16:00 - 16:40

Coffee Break.

16:40 - 17:20

Invited Speaker: Iuliana Ionita-Laza. Columbia University, New York (NY).
Integrative statistical approaches for predicting functional effects of variants in noncoding regions of the

17:20 - 17:40

Alexander Schoenhuth. Centrum Wiskunde en Informatica, Amsterdam (Netherland).
Using the structure of genome data in the design of deep neural networks for predicting amyotrophic lateral sclerosis from genotype.

17:40 - 17:50

Andrea Castro. University of California, San Diego (CA).
Elevated neoantigen levels in tumors with somatic mutations in the HLA-A, HLA-B, HLA-C and B2M genes.

17:50 - 18:00

Michal Sadowski. University of Warsaw, Warsaw (Poland).
Spatial Chromatin Architecture Alteration by Structural Variations in Human Genomes at Population Scale

18:00 - 18:05

Closing remarks from the committee.