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A Bayesian test for Hardy–Weinberg equilibrium of biallelic X-chromosomal markers

机译:双等位基因X染色体标记的Hardy-Weinberg平衡的贝叶斯检验

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摘要

The X chromosome is a relatively large chromosome, harboring a lot of genetic information. Much of the statistical analysis of X-chromosomal information is complicated by the fact that males only have one copy. Recently, frequentist statistical tests for Hardy–Weinberg equilibrium have been proposed specifically for dealing with markers on the X chromosome. Bayesian test procedures for Hardy–Weinberg equilibrium for the autosomes have been described, but Bayesian work on the X chromosome in this context is lacking. This paper gives the first Bayesian approach for testing Hardy–Weinberg equilibrium with biallelic markers at the X chromosome. Marginal and joint posterior distributions for the inbreeding coefficient in females and the male to female allele frequency ratio are computed, and used for statistical inference. The paper gives a detailed account of the proposed Bayesian test, and illustrates it with data from the 1000 Genomes project. In that implementation, a novel approach to tackle multiple testing from a Bayesian perspective through posterior predictive checks is used.
机译:X染色体是一个相对较大的染色体,具有许多遗传信息。 X染色体信息的许多统计分析由于男性只有一个副本而变得复杂。最近,针对Hardy-Weinberg平衡的频繁统计检验已经提出,专门用于处理X染色体上的标记。已经描述了常染色体的Hardy-Weinberg平衡的贝叶斯测试程序,但是在这种情况下缺乏在X染色体上的贝叶斯工作。本文提出了第一种贝叶斯方法,用于在X染色体上用双等位标记对哈代-温伯格平衡进行测试。计算了女性近交系数的边际和联合后验分布以及男女等位基因频率比,并将其用于统计推断。本文详细介绍了拟议的贝叶斯测试,并用1000个基因组计划的数据进行了说明。在该实现中,使用了一种新颖的方法来通过后验预测检查从贝叶斯角度解决多种测试。

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