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cnvOffSeq

cnvOffSeq

cnvOffSeq is specifically designed for the detection of intergenic copy number variation (CNV) using off-target exome sequencing data. The algorithm uses local adaptive singular value decomposition (SVD) to normalize off-target.

Topic

DNA structural variation; Genetic variation; Exome sequencing

Details

  • Operation: Copy number estimation
  • Software interface: Command-line user interface
  • Language: Java
  • Operating system: Linux; Mac OS X
  • License: GNU GPL v3+
  • Cost: Free
  • Version name: 0.1.2
  • Credit: The European Union’s seventh Framework program (EC-GA 279185), he Australian Research Council (FT110100972 to L.J.M.C).
  • Contact: evangelos.bellos09 _at_ imperial.ac.uk l.coin _at_ imperial.ac.uk
  • Collection: -

Publications

Bellos E, Coin LJ "cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data." Bioinformatics. 2014 Sep 1;30(17):i639-45. https://doi.org/10.1093/BIOINFORMATICS/BTU475
PMID: 25161258
PMCID: PMC4147927


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