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将测试基因组投影到参考群体上及其在人类和古代人类中的应用。

The projection of a test genome onto a reference population and applications to humans and archaic hominins.

作者信息

Yang Melinda A, Harris Kelley, Slatkin Montgomery

机构信息

Department of Integrative Biology, University of California, Berkeley, California 94720.

Department of Mathematics, University of California, Berkeley, California 94720.

出版信息

Genetics. 2014 Dec;198(4):1655-70. doi: 10.1534/genetics.112.145359. Epub 2014 Oct 15.

Abstract

We introduce a method for comparing a test genome with numerous genomes from a reference population. Sites in the test genome are given a weight, w, that depends on the allele frequency, x, in the reference population. The projection of the test genome onto the reference population is the average weight for each x, [Formula: see text]. The weight is assigned in such a way that, if the test genome is a random sample from the reference population, then [Formula: see text]. Using analytic theory, numerical analysis, and simulations, we show how the projection depends on the time of population splitting, the history of admixture, and changes in past population size. The projection is sensitive to small amounts of past admixture, the direction of admixture, and admixture from a population not sampled (a ghost population). We compute the projections of several human and two archaic genomes onto three reference populations from the 1000 Genomes project-Europeans, Han Chinese, and Yoruba-and discuss the consistency of our analysis with previously published results for European and Yoruba demographic history. Including higher amounts of admixture between Europeans and Yoruba soon after their separation and low amounts of admixture more recently can resolve discrepancies between the projections and demographic inferences from some previous studies.

摘要

我们介绍了一种将测试基因组与来自参考群体的众多基因组进行比较的方法。测试基因组中的位点被赋予一个权重w,该权重取决于参考群体中的等位基因频率x。测试基因组在参考群体上的投影是每个x的平均权重,[公式:见正文]。权重的分配方式是,如果测试基因组是参考群体的随机样本,那么[公式:见正文]。通过解析理论、数值分析和模拟,我们展示了投影如何取决于群体分裂时间、混合历史以及过去群体大小的变化。投影对少量过去的混合、混合方向以及来自未采样群体(幽灵群体)的混合很敏感。我们计算了几个现代人基因组和两个古代人基因组在千人基因组计划中的三个参考群体——欧洲人、汉族和约鲁巴人——上的投影,并讨论了我们的分析与先前发表的关于欧洲人和约鲁巴人人口历史结果的一致性。在欧洲人和约鲁巴人分离后不久包含更多的混合以及最近包含少量混合,可以解决一些先前研究中投影与人口推断之间的差异。

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