Table 3.
Comparative Performance on blindtest sets between BRCA1/2 classification models and other alternative predictors.
| Methods | ACC | MCC | Sens | Spec | ROC-AUC | |
|---|---|---|---|---|---|---|
| BRCA1 | SIFT10 | 0.67 | 0.62 | 76% | 64% | 0.81 |
| PolyPhen-213 | 0.68 | 0.41 | 68% | 59% | 0.71 | |
| Align-GVGD19,20 | 0.48 | 0.18 | 48% | 26% | 0.64 | |
| REVEL13 | 0.41 | 0.18 | 41% | 20% | 0.54 | |
| CADD40 | 0.74 | 0.58 | 74% | 59% | 0.80 | |
| Our model | 0.86 | 0.89 | 92% | 82% | 0.95 | |
| BRCA1-combined | SIFT10 | 0.67 | 0.62 | 76% | 64% | 0.81 |
| PolyPhen-213 | 0.68 | 0.41 | 68% | 59% | 0.71 | |
| Align-GVGD19,20 | 0.40 | 0.18 | 38% | 23% | 0.64 | |
| REVEL13 | 0.41 | 0.18 | 41% | 21% | 0.54 | |
| CADD40 | 0.74 | 0.58 | 73% | 59% | 0.80 | |
| Our model | 0.94 | 0.89 | 100% | 91% | 0.95 | |
| BRCA2 | SIFT10 | 0.62 | 0.42 | 62% | 52% | 0.76 |
| PolyPhen-213 | 0.58 | 0.40 | 58% | 48% | 0.74 | |
| Align-GVGD19,20 | 0.39 | 0.34 | 38% | 24% | 0.62 | |
| REVEL13 | 0.84 | 0.51 | 85% | 86% | 0.82 | |
| CADD40 | 0.58 | 0.58 | 58% | 48% | 0.74 | |
| Our model | 0.92 | 0.89 | 60% | 100% | 0.98 | |
| BRCA2-combined | SIFT10 | 0.74 | 0.51 | 74% | 70% | 0.85 |
| PolyPhen-213 | 0.69 | 0.46 | 69% | 64% | 0.82 | |
| Align-GVGD19,20 | 0.46 | 0.28 | 46% | 36% | 0.68 | |
| REVEL13 | 0.87 | 0.61 | 86% | 88% | 0.86 | |
| CADD40 | 0.74 | 0.58 | 74% | 70% | 0.85 | |
| Our model | 0.97 | 0.83 | 86% | 100% | 0.98 | |
| BRCA1/2-general model | SIFT10 | 0.69 | 0.52 | 69% | 59% | 0.79 |
| PolyPhen-213 | 0.65 | 0.47 | 65% | 54% | 0.77 | |
| Align-GVGD19,20 | 0.44 | 0.19 | 44% | 30% | 0.59 | |
| REVEL13 | 0.82 | 0.64 | 82% | 78% | 0.86 | |
| CADDyyy40 | 0.69 | 0.58 | 69% | 59% | 0.79 | |
| Our model | 0.92 | 0.76 | 93% | 100% | 0.95 |