RVFam

RVFam performs statistical association testing of rare and common sequencing variants in family-based genetic studies, supporting continuous, binary, and survival traits.

Key Features:

• Trait Analysis Flexibility: Supports analysis of continuous, binary, and survival traits using sequencing variant data.
• Handling Complex Family Structures: Manages arbitrary family structures for association testing in familial data.
• Single and Multiple Variant Tests: Implements single SNP association analyses and gene-based tests for individual-variant and aggregate analyses.
• Simulation Studies for Validation: Uses extensive simulation studies to evaluate and validate statistical performance.

Scientific Applications:

• Family-based GWAS: Enables genome-wide association studies (GWAS) using family-based designs to investigate genetic contributors to complex traits.
• Rare Variant Discovery in Families: Facilitates identification of rare risk variants segregating within families.

Methodology:

Implemented as an R software package that applies statistical methods to account for familial correlation, performs single SNP and gene-based association tests for continuous, binary, and survival traits, and is validated via extensive simulation studies.