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Publication Date:
January 2010
ISSN:
1544-6115
DOI:
10.2202/1544-6115.1463

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Editor-in-Chief: Stumpf, Michael P.H.

Editorial Board Member: Beaumont, Mark / Binder, Harald / Gupta, Mayetri / Hubbard, Alan E. / Husmeier, Dirk / Ji, Hongkai / Keles, Sunduz / Kerr, Kathleen / Lazzeroni, Laura / Lin, Shili / Ma, Ping / Marjoram, Paul / Mertens, Bart / Nerman, Olle / G. Petretto, Enrico / Plagnol, Vincent / Purdom, Elizabeth / Robin, Stéphane / Rzhetsky, Andrey / Sanguinetti, Guido / van der Laan, Mark J. / von Haeseler, Arndt / Weeks, Daniel E. / Wiuf, Carsten / Zhao, Hongyu

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Rank 27 out of 116 in category Statistics & Probability in the 2011 Thomson Reuters Journal Citation Report/Science Edition

Detecting Genotyping Error Using Measures of Degree of Hardy-Weinberg Disequilibrium

John Attia / Ammarin Thakkinstian / Patrick McElduff / Elizabeth Milne / Somer Dawson / Rodney J Scott / Nicholas de Klerk / Bruce Armstrong / John Thompson

1University of Newcastle

1Mahidol University

1University of Newcastle

1University of Western Australia

1University of Western Australia

1University of Newcastle

1University of Western Australia

1University of Sydney

1University of Leicester

Citation Information: Statistical Applications in Genetics and Molecular Biology. Volume 9, Issue 1, Pages –, ISSN (Online) 1544-6115, DOI: 10.2202/1544-6115.1463, January 2010

Publication History:
Published Online:
2010-01-06

Tests for Hardy-Weinberg equilibrium (HWE) have been used to detect genotyping error, but those tests have low power unless the sample size is very large. We assessed the performance of measures of departure from HWE as an alternative way of screening for genotyping error. Three measures of the degree of disequilibrium (?, ,D, and F) were tested for their ability to detect genotyping error of 5% or more using simulations and a real dataset of 184 children with leukemia genotyped at 28 single nucleotide polymorphisms. The simulations indicate that all three disequilibrium coefficients can usefully detect genotyping error as judged by the area under the Receiver Operator Characteristic (ROC) curve. Their discriminative ability increases as the error rate increases, and is greater if the genotyping error is in the direction of the minor allele. Optimal thresholds for detecting genotyping error vary for different allele frequencies and patterns of genotyping error but allele frequency-specific thresholds can be nominated. Applying these thresholds would have picked up about 90% of genotyping errors in our actual dataset. Measures of departure from HWE may be useful for detecting genotyping error, but this needs to be confirmed in other real datasets.

Keywords: association study; Hardy-Weinberg equilibrium; genotyping error; disequilibrium coefficient

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