Genetics Department, Stanford University, Stanford, California 94305-5120, USA.
Genetics. 2012 Jun;191(2):607-19. doi: 10.1534/genetics.112.139808. Epub 2012 Apr 4.
Migrations have played an important role in shaping the genetic diversity of human populations. Understanding genomic data thus requires careful modeling of historical gene flow. Here we consider the effect of relatively recent population structure and gene flow and interpret genomes of individuals that have ancestry from multiple source populations as mosaics of segments originating from each population. This article describes general and tractable models for local ancestry patterns with a focus on the length distribution of continuous ancestry tracts and the variance in total ancestry proportions among individuals. The models offer improved agreement with Wright-Fisher simulation data when compared to the state-of-the art and can be used to infer time-dependent migration rates from multiple populations. Considering HapMap African-American (ASW) data, we find that a model with two distinct phases of "European" gene flow significantly improves the modeling of both tract lengths and ancestry variances.
迁移在塑造人类群体的遗传多样性方面发挥了重要作用。因此,要理解基因组数据,就需要仔细模拟历史基因流动。在这里,我们考虑了相对较近的种群结构和基因流动的影响,并将具有多个来源种群祖先的个体的基因组解释为源自每个种群的片段的镶嵌体。本文描述了具有局部祖先模式的一般和易于处理的模型,重点是连续祖先片段的长度分布以及个体之间总祖先比例的方差。与最先进的方法相比,这些模型与 Wright-Fisher 模拟数据的一致性更好,可用于从多个群体推断时变迁移率。考虑到 HapMap 非裔美国人(ASW)数据,我们发现,一个具有两个不同阶段的“欧洲”基因流动的模型可以显著改善片段长度和祖先方差的建模。