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      Testing for ancient admixture between closely related populations.

      Molecular Biology and Evolution
      Algorithms, Animals, Computer Simulation, Evolution, Molecular, Gene Flow, genetics, Genetic Variation, Genetics, Population, Genome, Humans, Models, Statistical

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          Abstract

          One enduring question in evolutionary biology is the extent of archaic admixture in the genomes of present-day populations. In this paper, we present a test for ancient admixture that exploits the asymmetry in the frequencies of the two nonconcordant gene trees in a three-population tree. This test was first applied to detect interbreeding between Neandertals and modern humans. We derive the analytic expectation of a test statistic, called the D statistic, which is sensitive to asymmetry under alternative demographic scenarios. We show that the D statistic is insensitive to some demographic assumptions such as ancestral population sizes and requires only the assumption that the ancestral populations were randomly mating. An important aspect of D statistics is that they can be used to detect archaic admixture even when no archaic sample is available. We explore the effect of sequencing error on the false-positive rate of the test for admixture, and we show how to estimate the proportion of archaic ancestry in the genomes of present-day populations. We also investigate a model of subdivision in ancestral populations that can result in D statistics that indicate recent admixture.

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          Author and article information

          Journal
          21325092
          3144383
          10.1093/molbev/msr048

          Chemistry
          Algorithms,Animals,Computer Simulation,Evolution, Molecular,Gene Flow,genetics,Genetic Variation,Genetics, Population,Genome,Humans,Models, Statistical

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