Supplementary Figure 2 : Differential mutational burden between coldspots (CS) and highly recombining regions (HRRs) in a genomic subset of the data.

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

Supplementary Figure 2

Differential burden is computed using odds ratios (ORs), representing the relative enrichment of a category of variants compared to all variants in coldspots versus HRRs for (a) RNA and exome sequencing of French Canadians (FC) and for exome sequencing of (b) Europeans (EUR), (c) Asians (ASN) and (d) Africans (AFR) from the 1000 Genomes Project. Variants are categorized as rare (MAF < 0.01 in a population), nonsynonymous (missense and nonsense) and damaging (as predicted by both SIFT and PolyPhen-2). Highly covered exons (HC exons) have coverage above 20× for each position within the exons in all data sets. The set of exons analyzed does not affect the results, and the exome data set in French Canadians (FC) replicates the results found in RNA sequencing.