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

Detail

  • Operation: Genotyping

  • Software interface: Command-line user interface

  • Language: C++

  • 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.

  • Input: BAM/SAM

  • Output: -

  • Contact: abyzov.alexej@mayo.edu

  • Collection: -

  • Maturity: -

Publications

  • CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing.
  • Abyzov A, et al. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. 2011; 21:974-84. doi: 10.1101/gr.114876.110
  • https://doi.org/10.1101/gr.114876.110
  • PMID: 21324876
  • PMC: PMC3106330

Download and documentation

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