Incorporating regulatory interactions into gene-set analyses for GWAS data: A controlled analysis with the MAGMA tool.

ABSTRACT: To date, genome-wide association studies have identified thousands of statistically-significant associations between genetic variants, and phenotypes related to a myriad of traits and diseases. A key goal for human-genetics research is to translate these associations into functional mechanisms. Popular gene-set analysis tools, like MAGMA, map variants to genes they might affect, and then integrate genome-wide association study data (that is, variant-level associations for a phenotype) to score genes for association with a phenotype. Gene scores are subsequently used in competitive gene-set analyses to identify biological processes that are enriched for phenotype association. By default, variants are mapped to genes in their proximity. However, many variants that affect phenotypes are thoug

SUBMITTER: Groenewoud D 

PROVIDER: S-EPMC8939811 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature