PSE-HMM is a tool to detect copy number variation (CNV) in next-generation sequencing (NGS) data with mate-pairs. The PSE-HMM algorithm uses position-specific, a Gaussian mixture distribution, to model CNVs.
Genetics; Genetic variation
Malekpour SA, Pezeshk H, Sadeghi M "PSE-HMM: genome-wide CNV detection from NGS data using an HMM with Position-Specific Emission probabilities." BMC Bioinformatics. 2016 Nov 3;18(1):30. https://doi.org/10.1186/s12859-016-1296-y
PMID: 27809781
PMCID: PMC5445519
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