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Title:
Haplotype-based variant detection from short-read sequencing
Authors:
Garrison, Erik; Marth, Gabor
Publication:
eprint arXiv:1207.3907
Publication Date:
07/2012
Origin:
ARXIV
Keywords:
Quantitative Biology - Genomics, Quantitative Biology - Quantitative Methods
Comment:
9 pages, partial draft
Bibliographic Code:
2012arxiv1207.3907g

Abstract

The direct detection of haplotypes from short-read DNA sequencing data requires changes to existing small-variant detection methods. Here, we develop a Bayesian statistical framework which is capable of modeling multiallelic loci in sets of individuals with non-uniform copy number. We then describe our implementation of this framework in a haplotype-based variant detector, FreeBayes.
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Database: Astronomy
Physics
arXiv e-prints