ONCOCNV is a tool to detect copy number variation (CNV) in ultra-deep targeted sequencing. The algorithm uses multifactor normalization and annotation techniques to detect large copy number variation in amplicon sequencing data. The Authors claim their method to have comparable precision to CGH techniques.
DNA; Sequencing; Data quality management
Boeva V, Popova T, Lienard M, Toffoli S, Kamal M, Le Tourneau C, Gentien D, Servant N, Gestraud P, Rio Frio T, Hupé P, Barillot E, Laes JF "Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data." Bioinformatics. 2014 Dec 15;30(24):3443-50. https://doi.org/10.1093/bioinformatics/btu436
PMID: 25016581
PMCID: PMC4253825
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