We associated biological functions to global ancestry-associated DMRs using rGREAT (v.2.0.2)100, an R/Bioconductor package. Specifically, we selected significant DMRs (FDR < 0.05) and converted them into a genomic range format with plyranges (v.1.18.0)101, an R/Bioconductor package. After this conversion and filtering, we applied the ‘great’ function from rGREAT with the Molecular Signatures Database Canonical Pathway C5 (ref. 88) Gene Ontology database with background set to human genome (hg18) autosomal chromosomes. We extracted the enrichment results using the getEnrichmentTable function and plotted region–gene associations with the plotRegionGeneAssociation function from the rGREAT package.
