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使用相或非相祖先面板进行多向混合物反卷积。

Multiway admixture deconvolution using phased or unphased ancestral panels.

机构信息

Department of Statistics, University of Oxford, United Kingdom.

出版信息

Genet Epidemiol. 2013 Jan;37(1):1-12. doi: 10.1002/gepi.21692. Epub 2012 Nov 7.

DOI:10.1002/gepi.21692
PMID:23136122
Abstract

We describe a novel method for inferring the local ancestry of admixed individuals from dense genome-wide single nucleotide polymorphism data. The method, called MULTIMIX, allows multiple source populations, models population linkage disequilibrium between markers and is applicable to datasets in which the sample and source populations are either phased or unphased. The model is based upon a hidden Markov model of switches in ancestry between consecutive windows of loci. We model the observed haplotypes within each window using a multivariate normal distribution with parameters estimated from the ancestral panels. We present three methods to fit the model-Markov chain Monte Carlo sampling, the Expectation Maximization algorithm, and a Classification Expectation Maximization algorithm. The performance of our method on individuals simulated to be admixed with European and West African ancestry shows it to be comparable to HAPMIX, the ancestry calls of the two methods agreeing at 99.26% of loci across the three parameter groups. In addition to it being faster than HAPMIX, it is also found to perform well over a range of extent of admixture in a simulation involving three ancestral populations. In an analysis of real data, we estimate the contribution of European, West African and Native American ancestry to each locus in the Mexican samples of HapMap, giving estimates of ancestral proportions that are consistent with those previously reported.

摘要

我们描述了一种从密集的全基因组单核苷酸多态性数据推断混合个体局部血统的新方法。该方法称为 MULTIMIX,允许多个源群体,模型标记之间的群体连锁不平衡,适用于样本和源群体已经分相或未分相的数据集。该模型基于连续基因座窗口之间祖先切换的隐马尔可夫模型。我们使用从祖先面板中估计的参数,通过多元正态分布对每个窗口内的观察到的单倍型进行建模。我们提出了三种拟合模型的方法:马尔可夫链蒙特卡罗抽样、期望最大化算法和分类期望最大化算法。我们的方法在模拟具有欧洲和西非血统的个体上的性能表明,它与 HAPMIX 相当,两种方法的血统调用在三个参数组的 99.26%的基因座上一致。除了比 HAPMIX 更快之外,在涉及三个祖先群体的混合程度的一系列模拟中,它也表现良好。在对真实数据的分析中,我们估计了欧洲、西非和美洲原住民血统对 HapMap 中墨西哥样本中每个基因座的贡献,给出的祖先比例估计与先前报道的一致。

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