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Performance overview of all tested tools
| Tool | Median sensitivity (%) | Median specificity (%) |
|---|---|---|
| CADD (thr. 15) | 93.6 | 57.1 |
| CADD (thr. 20) | 90.4 | 68.8 |
| CADD (thr. 25) | 71.5 | 85.3 |
| Condel | 70.3 | 39.5 |
| DANN | 63.8 | 66.7 |
| FATHMM | 69.5 | 61.9 |
| FunSeq | 61.7 | 50.2 |
| GAVIN | 91.4 | 76.9 |
| GWAVA | 47.6 | 26.2 |
| MSC_ClinVar95CI | 84.7 | 64.4 |
| MSC_HGMD99CI | 97.1 | 25.7 |
| PolyPhen2 | 68.0 | 46.8 |
| PONP2 | 47.5 | 26.9 |
| PredictSNP2 | 66.8 | 70.6 |
| PROVEAN | 65.9 | 62.1 |
| SIFT | 67.9 | 57.9 |
