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novoCaller

novoCaller

a de novo variant calling algorithm that uses information from sequence data in the pedigree and unrelated samples.

Topic

Biology, Genetics, DNA polymorphism

Details

  • Operation: Polymorphism detection
  • Software interface: Command-line interface
  • Language: C++
  • Operating system: Linux, Mac OS X
  • License: Not stated
  • Cost: Free
  • Version name: -
  • Credit: Anwoy Kumar Mohanty, Dana Vuzman, Laurent Francioli, Christopher Cassa, Agnes Toth-Petroczy, Shamil Sunyaev
  • Contact: Anwoy Kumar Mohanty anwoy at iitbbs.ac.in, Agnes Toth-Petroczy atoth-petroczy at bwh.harvard.edu, Shamil Sunyaev ssunyaev at bwh.harvard.edu
  • Collection: -

Publications

Mohanty AK, Vuzman D, Francioli L, Cassa C, Brigham Genomic Medicine, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Toth-Petroczy A, Sunyaev S "novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data." Bioinformatics 2019; 35(7):1174-1180 https://doi.org/10.1093/bioinformatics/bty749
PMID: 30169785
PMCID: PMC6449753


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