HMMvar 1.1.0 / HMMvar-multi / HMMvar-func – Functional Effects of Variants in Coding Regions

HMMvar 1.1.0 / HMMvar-multi / HMMvar-funcnc

:: DESCRIPTION

HMMvar: Small indels account for the second largest portion of human variants, however, available methods for indel functional predictions, no matter in coding or noncoding regions, are many fewer compared to those for SNPs. We developed HMMvar for predicting the functional effects of both SNPs and indels in coding regions of sequences.

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HMMvar-multi: Complex diseases are likely to be caused by multiple genes and/or multiple mutations on individual genes, so quantitively measuring the effect of multiple variants together should be helpful for detecting causal genes/mutations for diseases. HMMvar-multi predicts the functional effects of multiple variants in the same gene based on HMMvar.

HMMvar-func is a new method for predicting the functional outcome of mutations in coding regions.

::DEVELOPER

Professor Zhang Liqing’s Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Perl

:: DOWNLOAD

HMMvar / HMMvar-multi / HMMvar-func

:: MORE INFORMATION

Citation

Liu M, Watson LT, Zhang L.
Predicting the combined effect of multiple genetic variants.
Hum Genomics. 2015 Jul 30;9(1):18. doi: 10.1186/s40246-015-0040-4. PMID: 26223264; PMCID: PMC4520001.

BMC Bioinformatics. 2015 Oct 30;16:351. doi: 10.1186/s12859-015-0781-z.
HMMvar-func: a new method for predicting the functional outcome of genetic variants.
Liu M, Watson LT, Zhang L.