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Open Access 12 months after Publication
Journal of Computational Biology
Genotype Error Detection Using Hidden Markov Models of Haplotype Diversity

To cite this article:
Justin Kennedy, Ion Măndoiu, Bogdan Paşaniuc. Journal of Computational Biology. November 2008, 15(9): 1155-1171. doi:10.1089/cmb.2007.0133.

Published in Volume: 15 Issue 9: October 30, 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.

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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