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. 2012;74(3-4):196-204.
doi: 10.1159/000345602. Epub 2013 Apr 11.

Imputation of rare variants in next-generation association studies

Jennifer L Asimit  1 , Eleftheria Zeggini
Affiliations

Imputation of rare variants in next-generation association studies

Jennifer L Asimit et al. Hum Hered. 2012.

Abstract

The role of rare variants has become a focus in the search for association with complex traits. Imputation is a powerful and cost-efficient tool to access variants that have not been directly typed, but there are several challenges when imputing rare variants, most notably reference panel selection. Extensions to rare variant association tests to incorporate genotype uncertainty from imputation are discussed, as well as the use of imputed low-frequency and rare variants in the study of population isolates.

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Figures

Figure 1
Figure 1. Flow chart of the steps taken in the use of imputation in a rare variant association analysis
See this image and copyright information in PMC

References

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