From: MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
Method | ANNOVAR | Human splicing finder | Skippy | MutPred splice |
---|---|---|---|---|
Splicing focus | Splice site disruption | All exonic and intronic | ESE/ESS disruption and cryptic splice site | All exonic |
Prediction output | Binary label | Multiple output scores | Multiple output scores | Probabilistic, with additional hypothesis of splicing mechanism disrupted |
TP | 41 | 65 | 68 (61) | 121 |
FP | 4 | 33 | 15 | 7 |
TN | 79 | 50 | 68 | 76 |
FN | 140 (0) | 116 | 113 (57) | 60 |
FPR% | 4.8 | 39.8 | 18.1 | 8.4 |
Sensitivity (%) | 22.7 (100.0) | 35.9 | 37.6 (51.7) | 66.9 |
Specificity (%) | 95.2 | 60.2 | 81.9 | 91.6 |
Accuracy (%) | 58.9 (97.6) | 48.1 | 59.7 (66.8) | 79.2 |
MCC | 0.22 (0.93) | -0.04 | 0.19 (0.34) | 0.54 |