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Position (Mb)

Figure 10.8 Evidence of incomplete selective sweeps on chromosome 2. Common SNPs with extreme integrated haplotype scores (iHS) are shown for the CEU (European geographic ancestry), YRI (African), and combined CHB/JPT (East Asian) Phase I HapMap populations. The short vertical lines below the plots indicate 100 kb windows falling in the top 1% genome-wide analyses. Reprinted with permission from Voight et al. (2006).

medical relevance (Barreiro et al. 2008). Local evidence of high Fgy values, expected to be associated with positive selection, was also enriched among nonsynonymous SNPs and those in the 5' untranslated region (UTR); a high proportion showed other signatures of positive selection and were implicated in disease much more frequently than expected by chance (Barreiro et al. 2008). Such analyses illustrate how approaches to resolve effects of selection are facilitating efforts to uncover gene loci and specific variants which may be involved in disease susceptibility.

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