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WISECONDOR

WISECONDOR

Wisecondor (WIthin-SamplE COpy Number aberration DetectOR) is a tool for detecting copy number variation (CNV) in low coverage whole-genome sequencing data. Wisecondor is designed and limited for use in prenatal diagnosis. The algorithm uses a normalization technique within samples.

Topic

Genetics; genetic variation

Details

  • Operation: Genetic variation analysis
  • Input: BAM, .npz
  • Output: -
  • Software interface: Command-line user interface
  • Language: Python
  • Operating system: Linux; Mac OS X
  • License: Attribution-NonCommercial-ShareAlike CC BY-NC-SA
  • Cost: Free for non commercial usage.
  • Version name: -
  • Credit: VU University Medical Center, Department of Clinical Genetics.
  • Contact: Roy Straver r.straver _at_ vumc.nl | Marcel J. T. Reinders m.j.t.reinders _at_ tudelft.nl
  • Collection: -

Publications

PMC3950725 "WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme." Nucleic Acids Res. 2014 Mar;42(5):e31. https://doi.org/10.1093/nar/gkt992
PMID: 24170809
PMCID: PMC3950725


Straver R, Sistermans EA, Reinders MJ "Introducing WISECONDOR for noninvasive prenatal diagnostics." Expert Rev Mol Diagn. 2014 Jun;14(5):513-5. https://doi.org/10.1586/14737159.2014.919855
PMID: 24831532


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