CNVfinder

CNVfinder is a tool to detect copy number variation in whole-genome exome sequencing data generated using amplicon-based enrichment technologies.

Topic

Genetics; Genetic variation

Details

Operation: Variant detection; Copy number estimation
Software interface: Command-line user interface
Language: Python
Operating system: Microsoft Windows, Mac OS X, Linux
License: The MIT License

Cost

Version name: -

Maturity:

Credit: The Wellcome Trust.
Contact: Nigel P. Carter npc _at_ sanger.ac.uk
Collection: -

Publications

Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, Clark R, Dovey O, Ellis P, Feuk L, French L, Hunt P, Kalaitzopoulos D, Larkin J, Montgomery L, Perry GH, Plumb BW, Porter K, Rigby RE, Rigler D, Valsesia A, Langford C, Humphray SJ, Scherer SW, Lee C, Hurles ME, Carter NP "Accurate and reliable high-throughput detection of copy number variation in the human genome." Genome Res. 2006 Dec;16(12):1566-74. Epub 2006 Nov 22. https://doi.org/10.1101/gr.5630906
PMID: 17122085
PMCID: PMC1665640

Download and documentation

Source: https://github.com/ip4-team/cnvfinder
Documentation: http://cnvfinder.readthedocs.io/en/lates
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Home page: https://github.com/ip4-team/cnvfinder

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CNVfinder

CNVfinder

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TOOLS

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