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m-HMM

m-HMM

m-HMM is a tool to detect copy number variation (CNV) in next-generation sequencing (NGS). The m-HMM algorithm uses a hidden Markov model (HMM) together with emission probabilities that are directed by mixture distributions, and it estimates the parameter values applying the Expectation-Maximization (EM) algorithm.

Topic

Genetics; Genetic variation

Details

  • Operation: Variant detection; Copy number estimation
  • Software interface: Command-line user interface; Library
  • Language: R
  • Operating system: Microsoft Windows, Mac OS X, Linux
  • License: GNU GPL v2 or v3
  • Cost: Free
  • Version name: -
  • Maturity: Stable
  • Credit: The National Science Foundation.
  • Contact: Heng Wang hengwang _at_ msu.edu | Dan Nettleton dnett _at_ iastate.edu | Kai Ying kai.ying _at_ nih.gov
  • Collection: -

Publications

Wang H, Nettleton D, Ying K "Copy number variation detection using next generation sequencing read counts." BMC Bioinformatics. 2014 Apr 14;15:109. https://doi.org/10.1186/1471-2105-15-109
PMID: 24731174
PMCID: PMC4021345


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