Imputation of Rare Variants in Next-Generation Association StudiesAsimit J.L. · Zeggini E.
Wellcome Trust Sanger Institute, Hinxton, UK
Jennifer L. Asimit
Wellcome Trust Sanger Institute
Morgan Building, Wellcome Trust Genome Campus
Hinxton CB10 1HH (UK)
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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.
© 2013 S. Karger AG, Basel
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