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Research Article
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Published Online: 30 October 2008

Genotype Error Detection Using Hidden Markov Models of Haplotype Diversity

Publication: Journal of Computational Biology
Volume 15, Issue Number 9

Abstract

The presence of genotyping errors can invalidate statistical tests for linkage and disease association, particularly for methods based on haplotype analysis. Becker et al. have recently proposed a simple likelihood ratio approach for detecting errors in trio genotype data. Under this approach, a SNP genotype is flagged as a potential error if the likelihood associated with the original trio genotype data increases by a multiplicative factor exceeding a user selected threshold when the SNP genotype under test is deleted. In this article we give improved error detection methods using the likelihood ratio test approach in conjunction with likelihood functions that can be efficiently computed based on a Hidden Markov Model of haplotype diversity in the population under study. Experimental results on both simulated and real datasets show that proposed methods have highly scalable running time and achieve significantly improved detection accuracy compared to previous methods.

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cover image Journal of Computational Biology
Journal of Computational Biology
Volume 15Issue Number 9November 2008
Pages: 1155 - 1171
PubMed: 18973433

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Published in print: November 2008
Published online: 30 October 2008

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Justin Kennedy
Computer Science and Engineering Department, University of Connecticut, Storrs, Connecticut.
Ion Măndoiu
Computer Science and Engineering Department, University of Connecticut, Storrs, Connecticut.
Bogdan Paşaniuc
Computer Science and Engineering Department, University of Connecticut, Storrs, Connecticut.

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