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CNVnator

CNVnator

A tool for discovery and characterization of copy number variation (CNV) in population genome sequencing data. The tool is also well suited for personal genome analysis. The method is based on the mean-shift, Multiple-bandwidth partitioning, and GC correction.

Topic

Genetics; Genotype and phenotype; Genomics; Human biology

Details

  • Operation: Genotyping
  • Input: BAM/SAM
  • Output: -
  • Software interface: Command-line user interface
  • Language: C++
  • Operating system: Linux
  • License: Other
  • Cost: Free
  • Version name: 0.4
  • Credit: The NIH and from the AL Williams Professorship funds.The Yale University Biomedical High Performance Computing Center's support team, Robert Bjornson, Nicholas Carriero. NIH grant RR19895.
  • Contact: abyzov.alexej _at_ mayo.edu
  • Collection: -

Publications

Abyzov A, Urban AE, Snyder M, Gerstein M "CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing." Genome Res. 2011 Jun;21(6):974-84. doi: 10.1101/gr.114876.110. Epub 2011 Feb 7. https://doi.org/10.1101/gr.114876.110
PMID: 21324876
PMCID: PMC3106330


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