Incorporating regulatory interactions into gene-set analyses for GWAS data: A controlled analysis with the MAGMA tool
Fig 1
An overview of gene-set analyses for GWAS data.
Gene-set analyses for GWAS data require that SNVs are mapped to genes (A) SNV-to-Gene Mapping, so that GWAS results (that is, SNV-level associations for all tested SNVs) can be used to test genes for association with a phenotype (B) Gene Scoring. The resulting gene scores are then used to identify biological processes enriched for phenotype association (C) Competitive Gene-Set Analysis. Everything is illustrated in the context of our work, which leveraged MAGMA, one of the most popular tools for gene-set analysis for GWAS data. Abbreviations: RI (regulatory interaction).