A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank.

ABSTRACT: Tests of association between a phenotype and a set of genes in a biological pathway can provide insights into the genetic architecture of complex phenotypes beyond those obtained from single-variant or single-gene association analysis. However, most existing gene set tests have limited power to detect gene set-phenotype association when a small fraction of the genes are associated with the phenotype and cannot identify the potentially "active" genes that might drive a gene set-based association. To address these issues, we have developed Gene set analysis Association Using Sparse Signals (GAUSS), a method for gene set association analysis that requires only GWAS summary statistics. For each significantly associated gene set, GAUSS identifies the subset of genes that have the maximal eviden

SUBMITTER: Dutta D 

PROVIDER: S-EPMC8059336 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature