基于snp的大规模亲子关系推断:一种有效的父母对分配统计置信度算法。

Pub Date : 2012-11-08 DOI:10.1515/1544-6115.1833
Eric C Anderson
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引用次数: 36

摘要

基因分型技术的进步使得数以万计的个体可以根据中等数量的单核苷酸多态性(snp)进行基因分型,这使得亲子关系推断可以在非常大的范围内进行。这种代际标记的能力使养殖生物(牛、鲑鱼等)的管理发生了革命性的变化,并准备为自然种群的科学研究做同样的事情。然而,目前还没有基于可能性的亲子关系推断方法,这些方法的实现方式允许他们快速处理大量潜在的父母或父母对。在这里,我们介绍了一种有效的基于似然的方法,适用于培养生物的特殊情况,其中双亲都可以可靠地取样。我们开发了一种马尔可夫链表示,用于后代与其假定父母之间孟德尔不相容的累积数量,并利用它开发了一种快速算法,用于基于snp的后代分配给父母对的统计置信度的模拟估计。该方法在免费软件SNPPIT中实现。我们详细描述了该方法,然后在一项大型模拟研究中评估了其性能,该研究使用了来自10个孵化场鲑鱼种群的96个snp的已知等位基因频率。仿真结果验证了该方法的快速和准确,并且96个精心选择的snp可以提供足够的功率从数百万对候选对中识别正确的父母对。
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Large-scale parentage inference with SNPs: an efficient algorithm for statistical confidence of parent pair allocations.

Advances in genotyping that allow tens of thousands of individuals to be genotyped at a moderate number of single nucleotide polymorphisms (SNPs) permit parentage inference to be pursued on a very large scale. The intergenerational tagging this capacity allows is revolutionizing the management of cultured organisms (cows, salmon, etc.) and is poised to do the same for scientific studies of natural populations. Currently, however, there are no likelihood-based methods of parentage inference which are implemented in a manner that allows them to quickly handle a very large number of potential parents or parent pairs. Here we introduce an efficient likelihood-based method applicable to the specialized case of cultured organisms in which both parents can be reliably sampled. We develop a Markov chain representation for the cumulative number of Mendelian incompatibilities between an offspring and its putative parents and we exploit it to develop a fast algorithm for simulation-based estimates of statistical confidence in SNP-based assignments of offspring to pairs of parents. The method is implemented in the freely available software SNPPIT. We describe the method in detail, then assess its performance in a large simulation study using known allele frequencies at 96 SNPs from ten hatchery salmon populations. The simulations verify that the method is fast and accurate and that 96 well-chosen SNPs can provide sufficient power to identify the correct pair of parents from amongst millions of candidate pairs.

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