CLIN_SKAT: an R package to conduct association analysis using functionally relevant variants
Journal
BMC Bioinformatics
Journal Volume
23
Journal Issue
1
Date Issued
2022-10-23
Author(s)
Abstract
Availability of next generation sequencing data, allows low-frequency and rare variants to be studied through strategies other than the commonly used genome-wide association studies (GWAS). Rare variants are important keys towards explaining the heritability for complex diseases that remains to be explained by common variants due to their low effect sizes. However, analysis strategies struggle to keep up with the huge amount of data at disposal therefore creating a bottleneck. This study describes CLIN_SKAT, an R package, that provides users with an easily implemented analysis pipeline with the goal of (i) extracting clinically relevant variants (both rare and common), followed by (ii) gene-based association analysis by grouping the selected variants.
Subjects
Association analysis; CLIN_SKAT; Clinically relevant variants; Dimension-reduction; R-package; Rare variants
Publisher
BMC
Type
journal article