cnvHiTSeq is a tool to detect copy number variation (CNV) and genotyping population sequencing data. The cnvHiTSeq algorithm incorporates evidence from the read depth, read pair orientation, split reads, and uses a hidden Markov model to make an integrated analysis of the data from the separate sources.
Genetics; genetic variation
Bellos E, Johnson MR, Coin LJ "cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data." Genome Biol. 2012 Dec 22;13(12):R120. doi: 10.1186/gb-2012-13-12-r120. https://doi.org/10.1186/gb-2012-13-12-r120
PMID: 23259578
PMCID: PMC4056371
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