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.
Keywords
HaplotypeDNA sequencingBayesian probabilityComputer scienceHaplotype estimationComputational biologyGeneticsData miningBiologyArtificial intelligenceGeneGenotype
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Publication Info
- Year
- 2012
- Type
- preprint
- Citations
- 3988
- Access
- Closed
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Cite This
Erik Garrison,
Gábor Marth
(2012).
Haplotype-based variant detection from short-read sequencing.
arXiv (Cornell University)
.
https://doi.org/10.48550/arxiv.1207.3907
Identifiers
- DOI
- 10.48550/arxiv.1207.3907