Table 5. Sensitivity and specificity compared to Sanger Sequencing.
| True pos, n | True neg, n | False pos, n | False neg, n | Sensitivity, % | Specificity, % | |
|---|---|---|---|---|---|---|
| MiSEQ Reporter 2.1.43 | ||||||
| Run01 | 47 | 119197 | 99 | 0 | 100 | >99.99 |
| Run02 | 47 | 119195 | 101 | 0 | 100 | >99.99 |
| Filtered, merged Runs 01+02 | 47 | 119190 | 94 | 0 | 100 | >99.99 |
| CLC Genomics Workbench 5.51 | ||||||
| Run01 | 39 | 119296 | 0 | 8 | 82.9 | 100 |
| Run02 | 40 | 119296 | 0 | 7 | 85.1 | 100 |
| Filtered, merged Runs 01+02 | 36 | 119296 | 0 | 11 | 76.7 | 100 |
| In-house Custom pipeline | ||||||
| Run01 | 42 | 119284 | 7 | 5 | 89.4 | >99.99 |
| Run02 | 43 | 119288 | 4 | 4 | 91.4 | >99.99 |
| Filtered, merged Runs 01+02 | 42 | 119285 | 4 | 7 | 87.2 | >99.99 |
Sensitivity of targeted next generation sequencing compared to current golden standard (automated Sanger sequencing) covering 5683 basepairs. Results are presented separately for both sequencing runs as well. Filtered and merged results incudes only variants available in both sequencing runs. Pos; positive, neg; negative.