ExPheWas

ExPheWas performs gene-based phenome-wide association analysis to identify associations between protein-coding genes and a wide array of phenotypes for elucidating genetic contributions to disease.

Key Features:

• Gene-Phenotype Associations: Associates 19,114 protein-coding gene regions with over 1,210 phenotypes, including anthropometric measurements, laboratory biomarkers, cancer registry data, hospitalization records, death record codes, and algorithmically-defined cardiovascular outcomes.
• Principal Components Analysis-Based Approach: Uses principal components analysis to model the joint effects of multiple genetic variants within protein-coding genes.
• Application in Disease Research: Identified genes associated with atrial fibrillation, highlighting known drug targets for arrhythmia treatment and implicating the cardiac muscle gene MYOT as a potential AF-associated gene.

Scientific Applications:

• Gene discovery and prioritization: Identifies candidate genes for follow-up functional studies and potential therapeutic targeting.
• Cardiovascular genetics: Applied to atrial fibrillation to highlight drug targets and genes involved in cardiac muscle function such as MYOT.

Methodology:

Uses principal components analysis to model the joint effects of genetic variants within protein-coding genes.