Table 1 Comparing the performance between AutScore, AutScore.r and autocasc in detecting ASD candidate variants.
Scoring Approaches | Sensitivity | Specificity | PPV | Accuracy (95% C.I.) | Yield (%) (Likely) |
---|---|---|---|---|---|
AutScore (≥ 12) | 0.91 | 0.62 | 0.58 | 0.72 (0.65, 0.79) | 9.81 |
AutScore.r (≥ 0.335) | 0.81 | 0.87 | 0.79 | 0.85 (0.79, 0.90) | 8.78 |
AutoCasC (> 6) | 0.92 | 0.13 | 0.4 | 0.43 (0.36, 0.51) | 9.98 |