Functional classification of genes containing nonsynonymous SNV candidates.Won, Yong JungSeul, Gi KwonMinky, SonEun, Seok ChoYuno, LeeJae Hwan, KimByeongWoo, KimDa, Hye ParkJung, Hye HwangTae Wan, Kim
To overcome these limitations, we herein propose a supervised learning approach, termed snvForest, to prioritize candidate nonsynonymous single nucleotide variants for a specific type of disease by integrating 11 functional scores at the variant level and 8 association scores at the gene level. We ...
nsSNVproteome-wide analysisAn enzyme's active site is essential to normal protein activity such that any disruptions at this site may lead to dysfunction and disease. Nonsynonymous single-nucleotide variations (nsSNVs), which alter the amino acid sequence, are one type of disruption that can ...
To our knowledge, MAPPIN is the first nsSNV pathogenicity prediction algorithm that provides mode of inheritance predictions, adding another layer of information for variant prioritization.NehalGosaliaAris NEconomidesFrederick EDeweySuganthiBalasubramanian...
The original seven prediction scores in v2.0 (SIFT, 2脳 Polyphen2, LRT, MutationTaster, MutationAssessor, and FATHMM) as well as many SNV and gene functional annotations have been updated. dbNSFP v3.0 is freely available at http://sites.google.com/site/jpopgen/dbNSFP.Xiaoming Liu...
dbscSNVSingle nucleotide variantNonsynonymousSplice siteIn silicoFunctional predictionDatabaseProtocolIn silico prediction methods have increasingly been valuable and popular in molecular biology, especially in human genetics, for deleteriousness prediction to filter and prioritize huge amounts of......