Venn Diagram from Scientific Research

Schematic depicting the directionality matching enrichment test results shown in e. Top, three hypothetical variants with “A” and “G” alleles in two populations where the first (leftmost) has no difference in allele frequency between populations or F ST =0, the second (middle) has the maximum possible difference in allele frequency between populations (“A” is fixed in population 1 and “G” is fixed in population 2) or F ST =1, and the third (rightmost) has the “G” allele at intermediate frequency in population 2 or F ST ≈0.11 in this case. Middle, diff-CRE bQTL from overlaps in a – c (gray gradient callout) were tested for enriched matching of ancestry-associated direction. Bottom, schematic of a matching direction diff-CRE bQTL. The blue gradient callout shows an example of a matching direction diff-CRE bQTL where the high affinity “G” allele from the same hypothetical bQTL shown in a is at higher frequency in AFR, which is the ancestry that has the higher ATAC or ChIP scores defining the diff-CRE.

DOI