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Bioinformatics 2009 25(12):i231-i239; doi:10.1093/bioinformatics/btp229
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© 2009 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Joint estimation of gene conversion rates and mean conversion tract lengths from population SNP data

Junming Yin 1, Michael I. Jordan 1,2 and Yun S. Song 1,2,*

1Computer Science Division and 2Department of Statistics, University of California, Berkeley, CA, USA

*To whom correspondence should be addressed.


  Abstract

Motivation: Two known types of meiotic recombination are crossovers and gene conversions. Although they leave behind different footprints in the genome, it is a challenging task to tease apart their relative contributions to the observed genetic variation. In particular, for a given population SNP dataset, the joint estimation of the crossover rate, the gene conversion rate and the mean conversion tract length is widely viewed as a very difficult problem.

Results: In this article, we devise a likelihood-based method using an interleaved hidden Markov model (HMM) that can jointly estimate the aforementioned three parameters fundamental to recombination. Our method significantly improves upon a recently proposed method based on a factorial HMM. We show that modeling overlapping gene conversions is crucial for improving the joint estimation of the gene conversion rate and the mean conversion tract length. We test the performance of our method on simulated data. We then apply our method to analyze real biological data from the telomere of the X chromosome of Drosophila melanogaster, and show that the ratio of the gene conversion rate to the crossover rate for the region may not be nearly as high as previously claimed.

Availability: A software implementation of the algorithms discussed in this article is available at http://www.cs.berkeley.edu/~yss/software.html.

Contact: yss{at}eecs.berkeley.edu


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