GenRisk

GenRisk integrates gene-based scoring schemes by combining burden-based rare deleterious coding variant scores and common-variant polygenic risk scores to analyze genetic contributions to complex traits.

Key Features:

• Integration of Genetic Contributions: Combines gene scores derived from the burden of rare deleterious coding variants and common-variants-based polygenic risk scores into unified gene-level metrics.
• Association Tests and Phenotype Prediction Models: Performs statistical association tests to identify significant genes and supports phenotype prediction using multiple classification and regression approaches.
• Compatibility with VCF Input Formats: Accepts Variant Call Format (VCF) files as input for genetic variant data.

Scientific Applications:

• Complex trait genetics: Dissects the relative contributions of rare deleterious coding variants and common regulatory variants to complex traits and diseases.
• Predictive genomics: Enables development and evaluation of phenotype prediction models based on integrated gene scores.

Methodology:

Calculates gene scores reflecting the burden of rare deleterious variants and the influence of common regulatory variants (polygenic risk scores), integrates these gene-level scores, and applies statistical association tests or machine learning models (classification and regression) for phenotype prediction using VCF-formatted input.