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. 2016 Aug 16;6:31321. doi: 10.1038/srep31321

Table 1. Summary of training and testing nsSNVs datasets.

  Name Source Number of pathogenic nsSNVs Number of neutral nsSNVs Removed variants overlapping with Notes
Training variants iFishTrainVar Pathogenic: HGMD 2014.4 58,794 70,189 Common nsSNVs (AF Inline graphic 1%) in 1000 Genomes and dbSNP were used as neutral variants.
Neutral: 1000 Genomes dbSNP138
Testing variants NovelVar Pathogenic: HGMD 2015.3 4,044 4,868 iFishTrainVar Common nsSNVs (AF Inline graphic 1%) in dbSNP were used as neutral variants.
Neutral: dbSNP142 PolyPhen2 training variants
SwissvarFilteredMix UniProt 1,217 1,324 iFishTrainVar Only variants on “mix” genes were included.
PolyPhen2 training variants
VaribenchSelectedPure Varibench 2,144 3,777 iFishTrainVar Only variants on “pure” genes were included.
PolyPhen2 training variants