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Genotype Imputation from Large Reference Panels
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2018-08-31 00:00:00 , DOI: 10.1146/annurev-genom-083117-021602
Sayantan Das 1 , Gonçalo R. Abecasis 1 , Brian L. Browning 2
Affiliation  

Genotype imputation has become a standard tool in genome-wide association studies because it enables researchers to inexpensively approximate whole-genome sequence data from genome-wide single-nucleotide polymorphism array data. Genotype imputation increases statistical power, facilitates fine mapping of causal variants, and plays a key role in meta-analyses of genome-wide association studies. Only variants that were previously observed in a reference panel of sequenced individuals can be imputed. However, the rapid increase in the number of deeply sequenced individuals will soon make it possible to assemble enormous reference panels that greatly increase the number of imputable variants. In this review, we present an overview of genotype imputation and describe the computational techniques that make it possible to impute genotypes from reference panels with millions of individuals.

中文翻译:


来自大型参考面板的基因型估算

基因型插补已成为全基因组关联研究的标准工具,因为它使研究人员能够从全基因组单核苷酸多态性阵列数据中廉价地近似全基因组序列数据。基因型估算增加了统计能力,促进了因果变异的精细定位,并在全基因组关联研究的荟萃分析中发挥了关键作用。只能推算先前在已测序个体的参考组中观察到的变体。然而,深度测序的个体数量的快速增加将很快使组装巨大的参考面板成为可能,这极大地增加了可插补变体的数量。在这篇评论中,

更新日期:2018-08-31
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