Table 4.
Confusion matrix and statistical measures of the ABCA4 DI variants
| Tool | Missing values | TP | FP | TN | FN | Accuracy (%) | PPV (%) | Sensitivity (%) | Specificity (%) | NPV (%) | MCC |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Alamut Consensus 3/4 | 0 | 11 | 14 | 46 | 10 | 70 | 44 | 52 | 77 | 82 | 0.28 |
| CADD | 0 | 12 | 24 | 36 | 9 | 59 | 33 | 57 | 60 | 80 | 0.15 |
| DSSP | 0 | 13 | 19 | 41 | 8 | 67 | 41 | 62 | 68 | 84 | 0.27 |
| GeneSplicer | 0 | 14 | 16 | 44 | 7 | 72 | 47 | 67 | 73 | 86 | 0.36 |
| MaxEntScan | 0 | 13 | 21 | 39 | 8 | 64 | 38 | 62 | 65 | 83 | 0.24 |
| NNSPLICE | 0 | 14 | 17 | 43 | 7 | 70 | 45 | 67 | 72 | 86 | 0.35 |
| SpliceAI | 0 | 19 | 3 | 57 | 2 | 94 | 86 | 90 | 95 | 97 | 0.84 |
| SpliceRover | 0 | 15 | 14 | 46 | 6 | 75 | 52 | 71 | 77 | 88 | 0.44 |
| SpliceSiteFinder‐like | 0 | 11 | 27 | 33 | 10 | 54 | 29 | 52 | 55 | 77 | 0.06 |
Abbreviations: FN, false negatives; FP, false positives; MCC, Mathew's correlation coefficient; NPV, negative predictive value; PPV, positive predictive value; TN, true negatives; TP, true positives.