Table 1 Sensitivity and specificity calculations, assuming the NGS to be the true result. The calculation is shown with and without filtering by sample QC or SM score
True negative | False negative | True positive | False positive | Sensitivity | Specificity | |
|---|---|---|---|---|---|---|
All samples, all SMs | 1121 | 9 | 302 | 42 | 0.88 | 0.99 |
All samples, SM score > 10 | 1121 | 9 | 251 | 5 | 0.98 | 0.99 |
Samples pass QC, all SMs | 800 | 7 | 220 | 19 | 0.92 | 0.99 |
Samples pass QC, SM score > 10 | 800 | 7 | 192 | 2 | 0.99 | 0.99 |