Genotype imputation.

Genotype imputation.
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DOI:
10.1146/annurev.genom.9.081307.164242
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发表时间:
2009
影响因子:
8.7
通讯作者:
Abecasis G
Abecasis G
中科院分区:
生物学2区
文献类型:
--
作者:
Li Y;Willer C;Sanna S;Abecasis G

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基因型插入现在是全基因组关联扫描分析的重要工具。这项技术使遗传学家能够准确地评估没有直接基因分型的遗传标记的关联证据。基因型插补增加了全基因组关联扫描的能力,对于结合依赖不同基因分型平台的研究的关联扫描结果特别有用。在这里,我们回顾了该技术的历史和理论基础。为了说明该方法的性能,我们总结了几个实际基因定位研究的结果。最后,我们预览了基因型插补在全基因组重测序变得越来越普遍的时代的作用。
Genotype imputation is now an essential tool in the analysis of genomewide association scans. The technique allows geneticists to accurately evaluate the evidence for association at genetic markers that are not directly genotyped. Genotype imputation increases power of genomewide association scans and is particularly useful for combining the association scan results across studies that rely on different genotyping platforms. Here, we review the history and theoretical underpinnings of the technique. To illustrate performance of the approach, we summarize results from several actual gene mapping studies. Finally, we preview the role of genotype imputation in an era when whole genome resequencing is becoming increasingly common.
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