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
Documentation: https://github.com/usuyama/hapmuc/blob/master/README.md
Home page: https://github.com/usuyama/hapmuc
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