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Karger Publishers, Human Heredity, 3-4(74), p. 196-204

DOI: 10.1159/000345602

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Imputation of rare variants in next generation association studies

Journal article published in 2012 by Jennifer L. Asimit, Eleftheria Zeggini ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.