Table 4.
Receiver operator curve characteristics of four gene prioritization tools
| VarElect | OMIMExplorer | Phenolyzer | |
|---|---|---|---|
| 10% FPR threshold | |||
| Accuracy (%) | 58.80% | 71.60% | 60.80% |
| Sensitivity (%) | 64.60% | 78.80% | 70.60% |
| Specificity (%) | 44.10% | 62.80% | 50.80% |
| AUC | 0.575 | 0.738 | 0.632 |
| 1% FPR threshold | |||
| Accuracy (%) | 67.90% | 52.40% | 57.60% |
| Sensitivity (%) | 84.80% | 100% | 87.90% |
| Specificity (%) | 55.10% | 45.70% | 48.40% |
| AUC | 0.745 | 0.832 | 0.731 |
AUC – area under the curve, FPR – false-positive rate
All HPO ID’s per case were used for this analysis
Bold entries indicate highest value for Accuracy, Sensitivity, Specificity and AUC across all three tools for each comparison