VarI community of special interest

VarI COSI 2022

What: Variant Interpretation Session at the Virtual ISMB 2022
When: 10:30 - 18:00 CDT, 12 July 2022
Where: Room FI Convention Center - Madison (WI), USA and Online Meeting.

Session 1

10:30 - 10:40

Opening remarks

10:40 - 11:20

Keynote talk: Nicole Soranzo. Human Technopole, Milano, Italy.
High-resolution genomic analyses in human populations

11:20 - 11:30

Leonardo Pellegrina. University of Padova, Padova, Italy.
Discovering significant evolutionary trajectories in cancer phylogenies .

11:30 - 11:40

Xiaolei Zhang.Imperial College London, United Kingdom.
Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery.

11:40 - 11:50

Shaolei Teng. Howard University, Rockville (MD), USA.
Systematic investigation of missense mutations of coronavirus spike and human receptor proteins.

11:50 - 12:30

Keynote talk: David Robertson. University of Glasgow, Glasgow, UK.
Evolution of SARS-CoV-2 variants: past, present and future.

12:30 - 14:30

Lunch break and poster session

Session 2

14:30 - 14:40

John Moult. University of Maryland, Rockville (MD) USA.
Lessons learned from 10 years of CAGI experiments.

14:40 - 14:50

Alessia David. Imperial College London, London UK.
Missense3D-PPI: a structure-based prediction algorithm of the impact of missense variants at protein interfaces.

14:50 - 15:00

Kivilcim Ozturk. University of California San Diego, La Jolla (CA), USA.
Predicting functional consequences of mutations using molecular interaction network features.

15:00 - 15:10

Emidio Capriotti. University of Bologna, Bologna, Italy.
Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants.

15:10 - 15:30

VarI sponsor: Shane Hussey - Variantyx.
Validation of WGS for clinical use down to 50 ng of DNA using tagmentation PCR-Free protocol.

15:30 - 16:00

Coffee Break

16:00 - 16:20

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

16:20 - 17:00

Keynote talk: Nathaniel Sharp. University of Wisconsin, Madison (WI), USA.
Yeast experiments provide insight into the molecular causes and phenotypic consequences of spontaneous mutations

17:00 - 17:10

Vikas Pejaver. Icahn School of Medicine at Mount Sinai, New York (NY), USA.
Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen
recommendations for their clinical use.

17:10 - 17:30

Farica Zhuang. University of Pennsylvania, Philadelphia (PA), USA.
Mapping the human RNA G-Quadruplexes and genetic variants that affect them using Transformer based modeling.

17:30 - 17:40

Blythe Moreland. The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus (OH), USA.
Information theoretic analysis of synonymous codon usage offers context-dependent metric to assess constraint
on synonymous variants.

17:40 - 18:00

Michal Linial. The Hebrew University of Jerusalem, Jerusalem, Israel.
Hypertension Genetics is Sex-dependent.

18:00 - 18:05

Closing remarks.