VarI community of special interest

VarI COSI 2021

What: Variant Interpretation Session at the Virtual ISMB/ECCB 2021
When: 11:00 - 15:20, 29-30 July 2021. All listed times are in UTC
Where: Online Meeting.

Session 1 - Thursday July 29, 2021

11:00 - 11:10

Opening remarks

11:10 - 12:00

Keynote talk: Alessandra Carbone. Sorbonne University, Paris, France.
Mutations in viruses and humans.

12:00 - 12:20

Proceedings talk: Chirag Jain. Indian Institute of Science, Bangalore, India.
A variant selection framework for genome graphs.

12:20 - 12:40

Coffee Break

12:40 - 12:50

Abhirami Ram.TCS Research, India.
Identifying Factors Important for Conservation at Sites of Synonymous Variation.

12:50 - 13:10

Bian Li. Vanderbilt University, Nashville (TN), USA.
The structural landscape of constrained sites in the human proteome.

13:10 - 14:00

Keynote talk: Ben Langmead. Johns Hopkins University, Baltimore (MD), USA.
Pan-genomic advances for fighting reference bias.

14:00 - 14:20

Coffee Break

14:20 - 14:40

Joanna von Berg. University Medical Center Utrecht, Netherlands.
PolarMorphism enables discovery of genetic variants with shared effect across multiple traits from GWAS summary statistics.

14:40 - 14:50

Elena Bernabeu. The University of Edinburgh, Edinburgh, United Kingdom.
Sex differences in genetic architecture in UK Biobank.

14:50 - 15:00

Yingying Wei. The Chinese University of Hong Kong, Hong Kong.
Identification of Ethnicity-Specific Associations in Multi-Ethnic Genome-Wide Association Studies.

15:00 - 15:20

Meghana Pagadala . University of California San Diego, La Jolla (CA), USA.
Germline variants that influence the tumor immune microenvironment also drive response to immunotherapy.

Session 2 - Friday July 30, 2021

11:00 - 11:50

Keynote talk: Ben Lehner. Centre for Genomic Regulation (CRG), Barcelona, Spain.
Sequence to energy and structure.

11:50 - 12:10

Giulia Babbi. University of Bologna, Bologna, Italy.
Physico-chemical and structural features of pathogenic and benign human protein missense variations collected from
HUMSAVAR and ClinVar.

12:10 - 12:20

Joseph Ng. King's College, London, United Kingdom.
Protein structural consequences of DNA mutational signatures: A meta-analysis of somatic variants and deep mutational
scanning data.

12:20 - 12:40

Coffee Break

12:40 - 12:55

VarI sponsor: Alexander Kaplun - Variantyx.
A unique solution to a (non) unique problem: calling variants in non-uniquely mappable regions using short-read WGS data.

12:55 - 14:00

VarI roundtable:
Yana Bromberg, Rutger University, New Brunswick (NJ), USA
Douglas Fowler, University of Washington, Seattle (WA), USA
Daniel Gilchrist, NHGRI, Bethesda (MD), USA
Predrag Radivojac, Northeastern University, Boston (MA), USA. .

14:00 - 14:20

Coffee Break.

14:20 - 14:30

Steven E. Brenner.University of California Berkeley, Berkeley (CA), USA.
The role of exome sequencing in newborn screening.

14:30 - 14:40

Marc Vaisband. Salzburg Cancer Research Institute, Salzburg, Austria.
Validation of genetic variants from NGS data using Deep Convolutional Neural Networks.

14:40 - 15:00

Martin Kircher. Charite University, Berlin, Germany.
CADD-SV -- a framework to score the effects of structural variants in health and disease.

15:00 - 15:10

Francisco Requena. Imagine Institute for Genetic Diseases, Paris, France.
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.

15:10 - 15:20

Stephen Yi. University of Texas at Austin, Austin (TX), USA.
Emerging gain-of-function mutations in disease: their computational interpretation and characterization.

15:20 - 15:25

Closing remarks.