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Tracking human population structure through time from whole genome sequences

机译:通过全基因组序列的时间跟踪人口结构

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The genetic diversity of humans, like many species, has been shaped by a complex pattern of population separations followed by isolation and subsequent admixture. This pattern, reaching at least as far back as the appearance of our species in the paleontological record, has left its traces in our genomes. Reconstructing a population’s history from these traces is a challenging problem. Here we present a novel approach based on the Multiple Sequentially Markovian Coalescent (MSMC) to analyze the separation history between populations. Our approach, called MSMC-IM, uses an improved implementation of the MSMC (MSMC2) to estimate coalescence rates within and across pairs of populations, and then fits a continuous Isolation-Migration model to these rates to obtain a time-dependent estimate of gene flow. We show, using simulations, that our method can identify complex demographic scenarios involving post-split admixture or archaic introgression. We apply MSMC-IM to whole genome sequences from 15 worldwide populations, tracking the process of human genetic diversification. We detect traces of extremely deep ancestry between some African populations, with around 1% of ancestry dating to divergences older than a million years ago.
机译:像许多物种一样,人类的遗传多样性已经被复杂的人口分离模式形状,然后分离和随后的混合物。这种模式至少在古生物记录中达到了我们物种的外观,已经在我们的基因组中留下了痕迹。从这些痕迹重建人口的历史是一个具有挑战性的问题。在这里,我们提出了一种基于多个顺序马尔可夫泛滥的新型方法,以分析群体之间的分离历史。我们的方法称为MSMC-IM,使用MSMC(MSMC2)的改进实施来估计群体内和跨越群体的聚结率,然后拟合连续的隔离迁移模型,以获得基因的时间依赖性估计流。我们使用模拟显示我们的方法可以识别涉及分裂后的混合物或古代血栓间的复杂的人口情景。我们将MSMC-IM应用于15个全球群体的全基因组序列,跟踪人类遗传多样化的过程。我们检测一些非洲群体之间极为深深的祖先的痕迹,约有1%的祖先约会到一百万年前的分歧。

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