Integrates predictions of several popular scores (SIFT, Polyphen-2, LRT, MutationTaster, MutationAssessor, FATHMM, PROVEAN, MetaSVM, MetaLR, GERP++, phyloP, phastCons, SiPhy) and population data to improve prediction accuracy. DeepEVS is a deep learning based nonsynonymous single nucleotide variations (nsSNV) deleteriousness meta-estimator. It is based on the genomic annotation provided in dbNSFP. Regarding the output, each line is accompanied by a comment string which depends on the score value.
Laboratory of Functional Analysis of the Genome, Moscow Institute of Physics and Technology, Moscow, Russia; Laboratory of Microbiological Monitoring and Bioremediation of Soils, All-Russia Research Institute for Agricultural Microbiology, St. Petersburg, Russia; iBinom Inc., Los Angeles, CA, USA; Research Center for Medical Genetics, Moscow, Russia
BadMut funding source(s)
Supported by the 5top100 Russian Academic Excellence program and by the Russian Science Foundation grant 14-26-00094.
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