Supplementary Figure 7: Allele frequencies are higher in MAE genes than in BAE genes.
From: Genes with monoallelic expression contribute disproportionately to genetic diversity in humans
(a) Site frequency spectra for variants in BAE and MAE genes by PolyPhen-2 classification for the African subpopulation. Top, benign variants; middle, fourfold-degenerate synonymous variants; bottom, damaging variants (defined as the union of possibly damaging, probably damaging and nonsense variants). Plot inserts zoom into derived allele frequencies between 20% and 90%. The x axis represents derived allele frequencies in bins of 10%, and the y axis shows the fraction of variants. (b) The low-frequency tail of site frequency spectra showing the fractions of singleton and doubleton sites in the sequences in the 1000 Genomes Project, African population. (c) Low-frequency tail of site frequency spectra for the sequences in the 1000 Genomes Project, global population. The allele frequency bins on the x axis correspond to derived allele counts of 1 to 10.
