Genotype Imputation

被引：824

作者：

Li, Yun ^{[1
]}

Willer, Cristen ^{[1
]}

Sanna, Serena ^{[2
]}

Abecasis, Goncalo ^{[1
]}

机构：

[1] Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI 48109 USA

[2] CNR, Ist Neurogenet & Neurofarmacol, Cagliari, Italy

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2009年 / 10卷

关键词：

whole genome association study; resequencing; association study; HapMap; 1000 Genomes Project; GENOME-WIDE ASSOCIATION; MULTIPOINT LINKAGE ANALYSIS; CORONARY-ARTERY-DISEASE; FASTING GLUCOSE-LEVELS; QUANTITATIVE TRAITS; PEDIGREE ANALYSIS; MACULAR DEGENERATION; SUSCEPTIBILITY LOCUS; STATISTICAL-METHOD; MISSING GENOTYPES;

D O I：

10.1146/annurev.genom.9.081307.164242

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：387 / 406

页数：20

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