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从标记数据中重建系谱的最大似然法的改进。

An improvement on the maximum likelihood reconstruction of pedigrees from marker data.

机构信息

Institute of Zoology, Zoological Society of London, London, UK.

出版信息

Heredity (Edinb). 2013 Aug;111(2):165-74. doi: 10.1038/hdy.2013.34. Epub 2013 Apr 24.

Abstract

Many methods have been proposed to reconstruct the pedigree of a sample of individuals from their multilocus marker genotypes. These methods, like those in other fields of statistical inferences, may suffer from both type I (falsely related) and type II (falsely unrelated) errors. In sibship reconstruction, type I errors come from the spurious fusion of two or more small sibships into a single sibship, and type II errors originate from the spurious splitting of a large sibship into two or more small sibships. In this study I investigate the tendencies of both types of errors made by the likelihood methods in sibship reconstruction, using both analytical and simulation approaches. I propose an improvement on the likelihood methods to reduce sibship splitting, and thus type II errors by downscaling the number of inferred siblings sharing the same genotype at a locus. Simulations are then conducted to compare the accuracy of the original and improved likelihood methods in sibship reconstruction of a large sample of individuals in full-sib families of the same small size, the same large size and highly variable sizes, using a variable number of loci with a variable number of alleles per locus. The methods were also applied to the analysis of a salmon data set. I show that my scaling scheme prevents effectively the splitting of large sibships, and reduces type II errors greatly with little increase in type I errors. As a result, it improves the overall accuracy of sibship assignments, except when sibships are expected to be uniformly small or marker information is unrealistically scarce.

摘要

许多方法已经被提出,用于从个体的多位点标记基因型中重建样本的系谱。这些方法,与统计推断的其他领域的方法一样,可能会受到Ⅰ类(错误相关)和Ⅱ类(错误不相关)错误的影响。在亲缘关系重建中,Ⅰ类错误源于两个或更多小亲缘关系融合成单个亲缘关系,Ⅱ类错误源于大亲缘关系错误地分裂成两个或更多小亲缘关系。在本研究中,我使用分析和模拟方法研究了亲缘关系重建中似然法产生的这两种错误的趋势。我提出了一种对似然法的改进,通过缩小推断出在一个位点上具有相同基因型的共享同一基因型的兄弟姐妹数量,从而减少亲缘关系分裂,进而减少Ⅱ类错误。然后,使用不同数量的具有不同等位基因数量的位点,对大小相同、大小高度可变的全同胞家庭中大量个体的亲缘关系重建进行模拟,比较原始和改进的似然法在亲缘关系重建中的准确性。该方法还应用于鲑鱼数据集的分析。我表明,我的缩放方案有效地防止了大亲缘关系的分裂,并大大减少了Ⅱ类错误,同时Ⅰ类错误略有增加。因此,它提高了亲缘关系分配的整体准确性,除非预期亲缘关系均匀较小或标记信息极不丰富。

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