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HMZDelFinder
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HMZDelFinder

HMZDelFinder is a tool for detection of homozygous/hemizygous copy number variation (CNV) in data from Mendelian disease cohorts.



HMZDelFinder

HMZDelFinder is a tool for detection of homozygous/hemizygous copy number variation (CNV) in data from Mendelian disease cohorts.

Topic

Genetic variation

Details

  • Operation: Copy number estimation; Genotyping; Variant calling
  • Software interface: Command-line user interface
  • Language: Ruby
  • Operating system: Mac OS X, Linux
  • License: Other
    • Cost: Free
  • Version name: 3.2.1
    • Maturity: Stable
  • Credit: The National Human Genome Research Institute/National Heart Lung and Blood Institute, National Institute of Neurological Disorders and Stroke, all Institutes of the United States National Institutes of Health, Polish National Science Centre, the Cancer Prevention & Research Institute of Texas training Program.
  • Contact: James R. Lupski jlupski _at_ bcm.edu
  • Collection: -

Publications

Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR "Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort." Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. https://doi.org/10.1093/nar/gkw1237
PMID: 27980096
PMCID: PMC5389578


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