Research Article
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User’s Point of View
Table 2
Summary of evaluation measures for 7 in silico tools only for de novo or cryptic splice sites.
| In silico tools | AUC (95% CI) | Cutoff | TP | FP | TN | FN | Sensitivity | Specificity |
| SpliceAI | 0.972 (0.937–1.008) | 0.02 | 44 | 2 | 62 | 2 | 0.957 | 0.969 | SpliceRover | 0.924 (0.838–1.010) | 0.095393 | 40 | 0 | 64 | 12 | 0.769 | 1 | SPiCE | 0.508 (0.457–0.559) | 0.49529 | 0 | 0 | 64 | 7 | 0 | 1 | MES | 0.827 (0.750–0.903) | 0.118125 | 31 | 0 | 62 | 15 | 0.674 | 1 | NNSplice | 0.818 (0.736–0.901) | 0.07 | 28 | 2 | 60 | 15 | 0.651 | 0.968 | SSF | 0.829 (0.757–0.901) | 0.0014 | 32 | 3 | 61 | 14 | 0.696 | 0.953 | HSF | 0.847 (0.774–0.921) | 0 | 27 | 0 | 64 | 12 | 0.692 | 1 |
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Abbreviations: AUC, area under the curve; TP, true positives; FP, false positives; TN, true negatives; FN, false negatives.
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