VarI community of special interest

VarI COSI 2020

What: Variant Interpretation Session at the Virtual ISMB Conference 2020
When: 10:30 AM - 6:00 PM, July 15th, 2020
Where: Online Meeting.

Session 1

10:30 - 10:40

Welcome from the committee

10:40 - 11:20

Keynote Speaker: Kelley Harris. University of Washington, Seattle (WA), USA.
New techniques for tracing mutation spectrum evolution: from linear inverse modeling to yeast reporter assays.

11:20 - 11:40

Marzieh Eslami Rasekh. Boston University, Boston (MA), USA.
Population-specific VNTR Alleles in the Human Genome.

11:40 - 12:00

Coffee Break

12:00 - 12:20

Arjun Bhattacharya.University of North Carolina, Chapel Hill (NC), USA.
Multi-omic strategies for transcriptome-wide prediction and association studies.

12:20 - 12:30

Joseph Atemia. International Centre of Insect Physiology and Ecology, Nairobi, Kenya.
Mining next-generation genome sequencing data for genetic diversity assessment of eastern Africa finger millet blast fungus.

12:30 - 12:40

Yi-Fei Huang. Pennsylvania State University, State College (PA), USA.
Unified inference of missense variant effects and gene constraints in the human genome.

12:40 - 14:00

Lunch Break and Online Posters.

Session 2

14:00 - 14:40

Keynote Speaker: Lincoln Stein. Ontario Institute for Cancer Research, Toronto (ON), Canada.
Somatic variant calling and interpretation in the Pan-Cancer Analysis of Whole Genomes project.

14:40 - 14:50

Remo Monti. Max Delbrück Center for Molecular Medicine, Berlin, Germany.
Seak marries regulatory genomics deep learning with rare-variant association tests.

14:50 - 15:05

Company Presentation: Alexander Kaplun - Variantyx.
Go big or go home: PCR-free WGS long and short read orthogonal test eliminates the need for multiple platform genetic tests.

15:05 - 15:20

Coffee Break.

15:20 - 15:40

Proceedings Talk: Berk Alpay. University of Connecticut, Storrs (CN) USA.
Combinatorial and statistical prediction of gene expression from haplotype sequence.

15:40 - 15:50

Patrick May. Luxembourg Centre for Systems Biomedicine, Luxembourg.
Gene family information facilitates classification of disease-causing variants and identification of pathogenic
variant enriched regions.

15:50 - 16:00

Zishuo Zeng. Rutgers University, New Brunswick (NJ), USA.
A fast and flexible framework for network assisted genomic association.

16:00 - 16:10

Joseph Chi-Fung Ng. King's College, London, United Kingdom.
Missense variants in health and disease affect distinct functional pathways and proteomics features.

16:10 - 16:20

Silvia Benevenuta University of Torino, Torino, Italy.
Calibrating variant-scoring methods for clinical decision making.

16:20 - 16:40

Muhammed Hasan Çelik. Technical University of Munich, Munich, Germany.
Missense variant effect landscapes across environments and genetic backgrounds.

16:40 - 17:00

Coffee Break.

17:00 - 17:40

Keynote Speaker: Frederick Roth. University of Toronto, Toronto (ON), Canada.
Missense variant effect landscapes across environments and genetic backgrounds.

17:40 - 18:00

Proceedings Talk: Michal Linial. The Hebrew University of Jerusalem, Jerusalem, Israel.
BIRD: Identifying cell doublets via biallelic expression from single cells.

18:00 - 18:05

Closing remarks from the committee.