VarI-COSI 2019 Meeting Programme

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.

Session 2
14:00 - 14:05
VarI-COSI afternoon session
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.
18:05 - 20:00 Poster session with the authors (VarI posters labelled with the letter U).