School of Computing, College of Engineering, University of Connecticut, Storrs, CT 06269.
Proc Natl Acad Sci U S A. 2024 Jan 9;121(2):e2316242120. doi: 10.1073/pnas.2316242120. Epub 2024 Jan 2.
The genome of an individual from an admixed population consists of segments originated from different ancestral populations. Most existing ancestry inference approaches focus on calling these segments for the extant individual. In this paper, we present a general ancestry inference approach for inferring recent ancestors from an extant genome. Given the genome of an individual from a recently admixed population, our method can estimate the proportions of the genomes of the recent ancestors of this individual that originated from some ancestral populations. The key step of our method is the inference of ancestors (called founders) right after the formation of an admixed population. The inferred founders can then be used to infer the ancestry of recent ancestors of an extant individual. Our method is implemented in a computer program called PedMix2. To the best of our knowledge, there is no existing method that can practically infer ancestors beyond grandparents from an extant individual's genome. Results on both simulated and real data show that PedMix2 performs well in ancestry inference.
来自混合人群的个体的基因组由源自不同祖先群体的片段组成。大多数现有的祖先推断方法主要集中于为现有个体调用这些片段。在本文中,我们提出了一种从现有基因组推断最近祖先的通用祖先推断方法。给定来自最近混合人群的个体的基因组,我们的方法可以估计该个体最近祖先的来自某些祖先群体的基因组的比例。我们方法的关键步骤是推断混合人群形成后不久的祖先(称为创始者)。然后可以使用推断的创始者来推断现有个体的最近祖先的祖先。我们的方法在一个名为 PedMix2 的计算机程序中实现。据我们所知,目前没有任何方法可以从现有个体的基因组中实际推断出曾祖父母之外的祖先。模拟和真实数据的结果表明,PedMix2 在祖先推断方面表现良好。