MSeq-CNV is an R program to detect copy number variation (CNV) from Sequencing based on Multiple samples. The algorithm uses a mixture density and models the number of mate-pairs using binomial distribution accounting for the insertion size and a Poisson distribution in each genomic position for computing the read counts. MSeq-CNV is well suited for diploid NGS data.
Genetics
Malekpour SA, Pezeshk H, Sadeghi M "MSeq-CNV: accurate detection of Copy Number Variation from Sequencing of Multiple samples." Sci Rep. 2018 Mar 5;8(1):4009. https://doi.org/10.1038/s41598-018-22323-8
PMID: 29507384
PMCID: PMC5838159
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