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An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

Lookup NU author(s): Professor Mark Walker


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A substantial investment has been made in the generation of large public resources designed to enable the identification of tag SNP sets, but data establishing the adequacy of the sample sizes used are limited. Using large-scale empirical and simulated data sets, we found that the sample sizes used in the HapMap project are sufficient to capture common variation, but that performance declines substantially for variants with minor allele frequencies of <5%. © 2005 Nature Publishing Group.

Publication metadata

Author(s): Zeggini E, Rayner W, Morris AP, Hattersley AT, Walker M, Hitman GA, Deloukas P, Cardon LR, McCarthy MI

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2005

Volume: 37

Issue: 12

Pages: 1320-1322

Print publication date: 01/12/2005

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group


DOI: 10.1038/ng1670

PubMed id: 16258542


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