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检测谱系关系错误。

Detecting pedigree relationship errors.

作者信息

Sun Lei

机构信息

Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.

出版信息

Methods Mol Biol. 2012;850:25-46. doi: 10.1007/978-1-61779-555-8_3.

Abstract

Pedigree relationship errors often occur in family data collected for genetic studies, and unidentified errors can lead to either increased false positives or decreased power in both linkage and association analyses. Here we review several allele sharing, as well as likelihood-based statistics, that were proposed to efficiently extract genealogical information from available genome-wide marker data, and the software package PREST that implements these methods. We provide detailed analytical steps involved using two application examples, and we discuss various practical issues including results interpretation.

摘要

在为基因研究收集的家系数据中,谱系关系错误经常出现,未识别的错误可能导致连锁分析和关联分析中假阳性增加或检验效能降低。在这里,我们回顾了几种为从可用的全基因组标记数据中有效提取系谱信息而提出的等位基因共享方法以及基于似然性的统计方法,以及实现这些方法的软件包PREST。我们通过两个应用示例提供了详细的分析步骤,并讨论了包括结果解释在内的各种实际问题。

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