rvsel
rvsel identifies rare variants associated with phenotypic traits by applying a power set-based selection procedure to evaluate all possible subsets of variants within a gene or genomic region.
Key Features:
- Power Set-Based Rare Variant Selection: Exhaustively tests all subset combinations of rare variants within a gene or region to detect specific variants driving associations.
- Mixed Effect Modeling: Detects coexisting risk and protective rare variants within the same locus, improving resolution in complex trait analysis.
Scientific Applications:
- Rare Variant Association Studies: Identifies susceptibility variants in complex diseases, including analyses of ANGPTL gene family sequence data from the Dallas Heart Study.
Methodology:
rvsel implements an exhaustive power set-based statistical selection framework that evaluates all combinations of rare variants within a gene or region to identify subsets significantly associated with phenotypic traits, enabling detection of both risk and protective effects.
Topics
Details
- Tool Type:
- command-line tool
- Operating Systems:
- Linux
- Programming Languages:
- R
- Added:
- 8/3/2017
- Last Updated:
- 11/25/2024
Operations
Publications
Sun H, Wang S. A power set-based statistical selection procedure to locate susceptible rare variants associated with complex traits with sequencing data. Bioinformatics. 2014;30(16):2317-2323. doi:10.1093/bioinformatics/btu207. PMID:24755303.
PMID: 24755303