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Imputation of Rare Variants in Next-Generation Association Studies

Asimit J.L. · Zeggini E.

Author affiliations

Wellcome Trust Sanger Institute, Hinxton, UK

Corresponding Author

Jennifer L. Asimit

Wellcome Trust Sanger Institute

Morgan Building, Wellcome Trust Genome Campus

Hinxton CB10 1HH (UK)

E-Mail ja11@sanger.ac.uk

Related Articles for ""

Hum Hered 2012;74:196-204

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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.

© 2013 S. Karger AG, Basel


Article / Publication Details

Published online: April 11, 2013
Issue release date: April 2013

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE


Open Access License / Drug Dosage / Disclaimer

Open Access License: This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC) (www.karger.com/OA-license), applicable to the online version of the article only. Distribution permitted for non-commercial purposes only.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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