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.

Documentation

Links