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祖先推断。一、问题与方法。

Ancestral inference. I. The problem and the method.

作者信息

Thompson E A, Cannings C, Skolnick M H

出版信息

Ann Hum Genet. 1978 Jul;42(1):95-108. doi: 10.1111/j.1469-1809.1978.tb00934.x.

Abstract

A method for inferring the ancestral genotypes for the founders of a population is developed. This method uses the algorithms for the computation of probabilities on pedigrees of arbitrary complexity, developed by Cannings et al. (1978) and implemented by Thompson (1977b). When characteristics are simply determined by underlying genotypes the inference problem is simplified, and larger and more complex pedigrees may therefore be analysed. The problem of estimating the allele frequencies to be used in computing prior genotype probabilities for those founders on whom a likelihood function is not required is discussed. The same method allows us to compute extinction probabilities for any combination of original founder genes; these probabilities are interesting parameters of pedigree structure, which, since they relate to the actual genes present in a population, help to provide a clearer understanding of observed distributions of autosomal traits.

摘要

开发了一种推断群体奠基者祖先基因型的方法。该方法使用了由坎宁斯等人(1978年)开发并由汤普森(1977b)实现的用于计算任意复杂系谱概率的算法。当特征仅由潜在基因型简单决定时,推断问题会得到简化,因此可以分析更大、更复杂的系谱。讨论了估计等位基因频率的问题,这些频率用于计算那些不需要似然函数的奠基者的先验基因型概率。同样的方法使我们能够计算任何原始奠基者基因组合的灭绝概率;这些概率是系谱结构的有趣参数,由于它们与群体中实际存在的基因相关,有助于更清楚地理解常染色体性状的观察分布。

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