RvTests

RvTests performs rare variant association analyses using multiple statistical tests for unrelated and related individuals across autosomal and X-linked variants.

Key Features:

• Comprehensive Rare Variant Association Tests: Implements gene-level and variant-level association statistics for rare variants in both unrelated and family-based designs, supporting autosomal and X-linked analyses.
• Integrated Annotation and Data Harmonization: Combines annotations, functional prediction scores, allele frequencies, genotypes, and phenotypes to define analysis units and prioritize candidate causal variants, with built-in data quality control.

Scientific Applications:

• Gene-Level Rare Variant Analysis in Complex Diseases: Jointly tests multiple rare variants within gene regions to investigate genetic architecture and identify disease-associated variants in large sequencing cohorts.

Methodology:

RvTests applies diverse rare variant association statistics, integrates functional and frequency annotations with genotype–phenotype data, performs quality control and sample filtering, and supports autosomal and X-linked analyses in both population-based and related-sample study designs.