ExomeCNV is a tool for detection of copy number variation (CNV) and loss of heterozygosity (LOH). The algorithm uses statistics of sequence coverage and B-allele frequencies for the estimation of CNV and LOH.
Exome sequencing; Statistics and probability; Genetic variation; Sequence analysis
Sathirapongsasuti JF, Lee H, Horst BA, Brunner G, Cochran AJ, Binder S, Quackenbush J, Nelson SF "Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV." Bioinformatics. 2011 Oct 1;27(19):2648-54. https://doi.org/10.1093/bioinformatics/btr462
PMID: 21828086
PMCID: PMC3179661
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