基因型推算
Genotype imputation.
作者信息
Li Yun, Willer Cristen, Sanna Serena, Abecasis Gonçalo
机构信息
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109-2029, USA.
出版信息
Annu Rev Genomics Hum Genet. 2009;10:387-406. doi: 10.1146/annurev.genom.9.081307.164242.
Abstract
Genotype imputation is now an essential tool in the analysis of genome-wide association scans. This technique allows geneticists to accurately evaluate the evidence for association at genetic markers that are not directly genotyped. Genotype imputation is particularly useful for combining results across studies that rely on different genotyping platforms but also increases the power of individual scans. Here, we review the history and theoretical underpinnings of the technique. To illustrate performance of the approach, we summarize results from several gene mapping studies. Finally, we preview the role of genotype imputation in an era when whole genome resequencing is becoming increasingly common.
摘要
基因型填充现已成为全基因组关联扫描分析中的一项重要工具。该技术使遗传学家能够准确评估在未直接进行基因分型的遗传标记处的关联证据。基因型填充对于整合依赖不同基因分型平台的多项研究结果尤为有用，同时也增强了单个扫描的效能。在此，我们回顾该技术的历史和理论基础。为说明该方法的性能，我们总结了多项基因定位研究的结果。最后，我们展望基因型填充在全基因组重测序日益普遍的时代所发挥的作用。
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