对含未知基因型个体的家系进行单倍型推断的EM方法

EM Algorithm for Haplotype Inference Incorporating\\Ungenotyped Individuals in Pedigree Studies

  • 摘要: 单倍型推断在现代连锁分析和关联分析中起着非常关键的作用. 目前的单倍型推断方法基本上是根据基因型去推断个体的单倍型, 而实际家系中某些个体的基因型经常是有部分缺失或者是完全未知的. 本文给出了当家系中含有部分缺失或者完全缺失基因型个体时的单倍型推断的EM方法, 并且给出了参数估计的标准差, 最后通过模拟研究证实了我们的方法的可行性.

     

    Abstract: Haplotype inference and reconstruction have become an essential step in linkage analysis and association analysis. The methods for haplotype inference are all based on the complete genotype data sets. However, genotypes of some individuals in each pedigree may be partly missing or ungenotyped. In this article, we propose a new EM algorithm to perform haplotype inference incorporating ungenotyped individuals in pedigree studies. We also give the standard errors of estimated parameters and evaluate the performance of our method by simulation studies.

     

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