HapMuC

HapMuC is a Bayesian hierarchical method for accurately detecting somatic point mutations with low allele frequencies in cancer samples using available information on heterozygous germ line variants located near candidate mutations. The tool constructs generative models of candidate haplotypes, infers haplotype frequencies and computes marginal likelihoods using a variational Bayesian algorithm, and derives a Bayes factor to evaluate the possibility of somatic mutations. HapMuC has been shown to have superior specificity and sensitivity compared to existing methods, as demonstrated through simulations and real datasets.

Topic

DNA mutation;Genetic variation;Genetics

Detail

  • Operation: Polymorphism detection

  • Software interface: Command-line user interface

  • Language: Ruby;C++;Python

  • License: GNU General Public License, Version 3.0

  • Cost: Free

  • Version name: ver1.0

  • Credit: Grant-in-Aid for Scientific Research on Innovative Areas.

  • Input: -

  • Output: -

  • Contact: usuyama@hgc.jp

  • Collection: -

  • Maturity: -

Publications

  • HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations.
  • Usuyama N, et al. HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations. HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations. 2014; 30:3302-9. doi: 10.1093/bioinformatics/btu537
  • https://doi.org/10.1093/bioinformatics/btu537
  • PMID: 25123903
  • PMC: PMC4816033

Download and documentation


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