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PennCNV2 is a tool for detecting copy number variation (CNV) from single nucleotide polymorphism (SNP) arrays and next-generation sequencing (NGS) data. The tool used the maximum likelihood method and the Hidden Markov Model (HMM) to include and integrate allele-specific SPN intensity and physical maps for posterior inference of copy number alterations.
Alternate names: PennCNV-tumor, PennCNV


Genetics; DNA structural variation; Medical informatics; DNA polymorphism



Chen GK, Chang X, Curtis C, Wang K "Precise inference of copy number alterations in tumor samples from SNP arrays." Bioinformatics. 2013 Dec 1;29(23):2964-70. doi: 10.1093/bioinformatics/btt521. Epub 2013 Sep 9.
PMID: 24021380
PMCID: PMC3834792

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