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.
Medical informatics, DNA mutation
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
If you find errors, please report here.
SECTIONS
TutorialsFind thousands of Bioinformatics and Life Science software tools and databases in the newly launched
Ads