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Table of Contents
Vol. 68, No. 1, 2009
Issue release date: April 2009
Section title: Original Paper
Free Access
Hum Hered 2009;68:1–22

Markov Models for Inferring Copy Number Variations from Genotype Data on Illumina Platforms

Wang H.a · Veldink J.H.e · Blauw H.e · van den Berg L.H.e · Ophoff R.A.b, c, f · Sabatti C.b, d
aDepartment of Biostatistics, University of California at Berkeley, Berkeley, bDepartment of Human Genetics, cSemel Institute, and dDepartment of Statistics, UCLA, Los Angeles, Calif., USA; Departments of eNeurology and fMedical Genetics, University of Utrecht, Utrecht, The Netherlands
email Corresponding Author

Hui Wang

Department of Biostatistics

101 Havilard Hall, University of California at Berkeley

94720-7358, Berkeley, CA (USA)

Tel. +1 510 642 3241, Fax +1 510 643 5163, E-Mail hwangui@berkeley.edu

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Background/Aims: Illumina genotyping arrays provide information on DNA copy number. Current methodology for their analysis assumes linkage equilibrium across adjacent markers. This is unrealistic, given the markers high density, and can result in reduced specificity. Another limitation of current methods is that they cannot be directly applied to the analysis of multiple samples with the goal of detecting copy number polymorphisms and their association with traits of interest. Methods: We propose a new Hidden Markov Model for Illumina genotype data, that takes into account linkage disequilibrium between adjacent loci. Our framework also allows for location specific deletion/duplication rates. When multiple samples are available, we describe a methodology for their analysis that simultaneously reconstructs the copy number states in each sample and identifies genomic locations with increased variability in copy number in the population. This approach can be extended to test association between copy number variants and a disease trait. Results and Conclusions: We show that taking into account linkage disequilibrium between adjacent markers can increase the specificity of a HMM in reconstructing copy number variants, especially single copy deletions. Our multisample approach is computationally practical and can increase the power of association studies.

© 2009 S. Karger AG, Basel

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: February 28, 2008
Accepted: October 13, 2008
Published online: April 01, 2009
Issue release date: April 2009

Number of Print Pages: 22
Number of Figures: 12
Number of Tables: 6

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

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

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