Supplementary Figure 7 : Additional simulations testing the effect of recombination rates and phasing.

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

Supplementary Figure 7

(a) Distribution of effects for initial and modified coldspot (CS) and highly recombining region (HRR) rates in simulations, with CS/HRR recombination rates matching the rates in the CEU and YRI maps, respectively (Supplementary Note, section 4). The distributions are significantly different, but the shift in the mean is very weak and unlikely to cause the large differences observed between populations in Figure 5. (b,c) Effect of phasing on the distribution of the number of haplotypes with two and more rare mutations (MAF < 0.01) in real haplotypes and phased haplotypes on chunks of the same length (25 kb) in simulated coldspots and HRRs. (b) The number of haplotypes with two mutations is reduced by statistical phasing with SHAPEIT2, (b) but no significant difference between coldspots and HRRs was found in this phasing bias.