Extended Data Figure 6: Summary of positive selection results.
From: Genomic analyses inform on migration events during the peopling of Eurasia
a, Bar plot comparing frequency distributions of functional variants in Africans and non-Africans. The distribution of exonic SNPs according to their functional impact (synonymous, missense and nonsense) as a function of allele frequency. Note that the data from both groups was normalized for a sample size of n = 21 and that the Africans show significantly (χ2 P < 1 × 10-15) more rare variants across all sites classes. b, Result of 1,000 bootstrap replica of the RX/Y test for a subset of pigmentation genes highlighted by Genome Wide Association Studies (GWAS, n = 32). The horizontal line provides the African reference (x = 1) against which all other groups are compared. The blue and red marks show the 95th and the 5th percentile of the bootstrap distributions respectively. If the 95th percentile is below 1, then the population shows a significant excess of missense variants in the pigmentation subset relative to the Africans. Note that this is the case for all non-Africans except the Oceanians. c, Pools of individuals for selection scans. fineSTRUCTURE-based co-ancestry matrix was used to define twelve groups of populations for the downstream selection scans. These groups are highlighted in the plot by boxes with broken line edges. The number of individuals in each group is reported in Supplementary Table 1:3.2-I.
