FATHMM 2.3 / FATHMM-MKL – Predicting the Functional Effects of Protein Missense Mutations

FATHMM 2.3 / FATHMM-MKL

:: DESCRIPTION

FATHMM (Functional Analysis through Hidden Markov Models) is a high-throughput web-server capable of predicting the functional, molecular and phenotypic consequences of protein missense variants using hidden Markov models (HMMs) representing the alignment of homologous sequences and conserved protein domains.

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FATHMM-MKL , a MKL-based algorithm, capable of predicting the effects of both coding and non-coding variants using nucleotide-based HMM

::DEVELOPER

Tom Gaunt’s group in the MRC IEU

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows/ MacOsX
  • MySQL
  • Python

:: DOWNLOAD

 FATHMM , FATHMM-MKL

:: MORE INFORMATION

Citation:

An Integrative Approach to Predicting the Functional Effects of Non-Coding and Coding Sequence Variation.
Shihab HA, Rogers MF, Gough J, Mort M, Cooper DN, Day IN, Gaunt TR, Campbell C.
Bioinformatics. 2015 Jan 11. pii: btv009.

Hum Mutat. 2013 Jan;34(1):57-65. doi: 10.1002/humu.22225. Epub 2012 Nov 2.
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.
Shihab HA1, Gough J, Cooper DN, Stenson PD, Barker GL, Edwards KJ, Day IN, Gaunt TR.

Bioinformatics. 2013 Jun 15;29(12):1504-10. doi: 10.1093/bioinformatics/btt182. Epub 2013 Apr 25.
Predicting the functional consequences of cancer-associated amino acid substitutions.
Shihab HA1, Gough J, Cooper DN, Day IN, Gaunt TR.