Detecting recent positive selection in the human genome from haplotype structure

摘要: The ability to detect recent natural selection in the human population would have profound implications for study of history and medicine. Here, we introduce a framework detecting genetic imprint positive by analysing long-range haplotypes populations. We first identify at locus interest (core haplotypes). then assess age each core haplotype decay its association alleles various distances from locus, as measured extended homozygosity (EHH). Core that unusually high EHH frequency indicate presence mutation rose prominence gene pool faster than expected under neutral evolution. applied this approach investigate two genes carrying common variants implicated resistance malaria: G6PD CD40 ligand. At both loci, proposed protective stand out show significant evidence selection. More generally, method could be used scan entire genome