Supplementary Figure 5 : Differential mutational burden in conservation categories.

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

Supplementary Figure 5

Differential mutational burden between coldspots (CS) and highly recombining regions (HRRs) for rare (MAF < 0.01), nonsynonymous (nonsyn), damaging and constrained variants in (a) French Canadians (FCQ) and (b) Europeans (EUR) for highly covered (HC) exons and in (c) Asians (ASN) and (d) Africans (AFR) for the whole exome. Results for EUR in the whole exome are presented in Figure 3a. Conservation categories are described in Supplementary Table 7. Results for ASN and AFR in HC exons (data not shown) are similar to EUR results. For all populations and exon data sets, the medium high and high conservation categories always show a significant enrichment for potentially deleterious mutations in coldspots.