Distinguishing between Selective Sweeps from Standing Variation and from a De Novo Mutation

作者: Benjamin M. Peter , Emilia Huerta-Sanchez , Rasmus Nielsen

DOI: 10.1371/JOURNAL.PGEN.1003011

关键词: BiologyEvolutionary biologyGeneticsBalancing selectionASPMNatural selectionApproximate Bayesian computationAlleleLocus (genetics)Genetic variationHuman genetics

摘要: An outstanding question in human genetics has been the degree to which adaptation occurs from standing genetic variation or de novo mutations. Here, we combine several common statistics used detect selection an Approximate Bayesian Computation (ABC) framework, with goal of discriminating between models and providing estimates age selected alleles coefficients acting on them. We use simulations assess power accuracy our method apply it seven strongest sweeps currently known humans. identify two genes, ASPM PSCA, that are most likely affected by variation; find three ADH1B, LCT, EDAR, adaptive seem have swept a new mutation. also confirm evidence for one further gene, TRPV6. In G6PD, neither neutral nor selective fit data, presumably because this locus subject balancing selection.

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