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PredictSNP2

PredictSNP2

A classifier, combining the output from CADD, FATHMM, DANN, GWAVA, and FunSeq2 to evaluate pathogenic effects in a human genome. The tool provides corresponding annotations from dbSNP, HaploReg, RegulomeDB, GenBank, Clinvar, OMIM, UCSC, and Ensembl databases.

Topic

Medical informatics, DNA mutation

Details

  • Operation: Sequence variations, Gene functional annotation, Variant classification
  • Software interface: Web user interface
  • Language: Java, Javascript
  • Operating system: Linux, ac OS X, Microsoft Windows
  • License: Not stated
  • Cost: Free for the scientific and medical community
  • Version name: 1.0
  • Maturity: Mature
  • Credit: Bendl J, Musil M, Štourač J, Zendulka J, Damborský J, Brezovský J.
  • Contact: PredictSNP2 team, predictsnp at sci.muni.cz, http://loschmidt.chemi.muni.cz/
  • Collection: -

Publications

Bendl J, Musil M, Štourač J, Zendulka J, Damborský J, Brezovský J "PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions." PLoS Comput. Biol. 2016; 12(5):e1004962 https://doi.org/10.1371/journal.pcbi.1004962
PMID: 27224906
PMCID: PMC4880439


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