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推断共同祖先系数。

Drawing inferences about the coancestry coefficient.

作者信息

Samanta Suvajit, Li Yi-Ju, Weir Bruce S

机构信息

BARDS, Merck Research Laboratories, Rahway, NJ 07065-0900, USA.

出版信息

Theor Popul Biol. 2009 Jun;75(4):312-9. doi: 10.1016/j.tpb.2009.03.005. Epub 2009 Apr 2.

Abstract

The coancestry coefficient, also known as the population structure parameter, is of great interest in population genetics. It can be thought of as the intraclass correlation of pairs of alleles within populations and it can serve as a measure of genetic distance between populations. For a general class of evolutionary models it determines the distribution of allele frequencies among populations. Under more restrictive models it can be regarded as the probability of identity by descent of any pair of alleles at a locus within a random mating population. In this paper we review estimation procedures that use the method of moments or are maximum likelihood under the assumption of normally distributed allele frequencies. We then consider the problem of testing hypotheses about this parameter. In addition to parametric and non-parametric bootstrap tests we present an asymptotically-distributed chi-square test. This test reduces to the contingency-table test for equal sample sizes across populations. Our new test appears to be more powerful than previous tests, especially for loci with multiple alleles. We apply our methods to HapMap SNP data to confirm that the coancestry coefficient for humans is strictly positive.

摘要

共祖系数,也称为群体结构参数,在群体遗传学中备受关注。它可以被看作是群体内等位基因对的组内相关性,并且可以作为群体间遗传距离的一种度量。对于一般类别的进化模型,它决定了群体中等位基因频率的分布。在更严格的模型下,它可以被视为随机交配群体中一个位点上任意一对等位基因通过遗传获得相同性的概率。在本文中,我们回顾了在等位基因频率呈正态分布的假设下使用矩法或最大似然法的估计程序。然后我们考虑关于这个参数的假设检验问题。除了参数和非参数自助检验,我们还提出了一种渐近分布的卡方检验。当各群体样本量相等时,这个检验简化为列联表检验。我们的新检验似乎比以前的检验更具效力,特别是对于具有多个等位基因的位点。我们将我们的方法应用于HapMap SNP数据,以确认人类的共祖系数严格为正。

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