Supplementary Figure 3 : Minor allele frequencies (MAF) impact on odds ratios between coldspots (CS) and high recombining regions (HRRs).

From: Recombination affects accumulation of damaging and disease-associated mutations in human populations

Supplementary Figure 3

Impact of MAF on the effects for functional mutations in the French-Canadian (FCQ) RNA sequencing data set (a,b) and for private and shared variants in (c) Europeans (EUR) and (d) Africans (AFR). (a) The enrichment of nonsynonymous and damaging mutations in coldspots remains significant for MAF < 0.05, indicating that the excess of rare variants in coldspots does not drive the effect for nonsynonymous and damaging variants. (b) Neutral variants with MAF < 0.05 are enriched in coldspots in comparison to more frequent variants, indicating that neutral diversity contributes to the excess of rare variants in coldspots. (c,d) The enrichment of private mutations in coldspots and of shared mutations in HRRs remains significant for MAF < 0.1 in both EUR and AFR, indicating that these effects are not driven only by differences in allele frequency between shared and private variants.