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Genotype Imputation
September 2009
September 2009
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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.