Table 1. OpEx variant calling performance in ICR142 NGS validation series.
| Variant type | All calls | High quality calls | |
|---|---|---|---|
| Sensitivity | Overall* | 378/389 (97%) | 368/389 (95%) |
| Base substitutions | 120/120 (100%) | 117/120 (98%) | |
| All indels | 274/286 (96%) | 266/286 (93%) | |
| Short indels | 258/269 (96%) | 251/269 (93%) | |
| Long indels | 16/17 (94%) | 15/17 (88%) | |
| Specificity | Overall* | 288/320 (90%) | 309/320 (97%) |
| No base substitution present | 27/45 (61%) | 43/45 (96%) | |
| No indel present (short only) | 261/275 (95%) | 266/275 (97%) | |
| No indel present (short and long) | 245/275 (89%) | 260/275 (95%) | |
| False detection rate | Overall* | 32/410 (8%) | 11/379 (3%) |
| Base substitutions | 18/138 (13%) | 2/119 (2%) | |
| All indels | 32/307 (10%) | 15/281 (5%) | |
| Short indels | 15/273 (6%) | 9/260 (4%) | |
| Long indels | 16/32 (50%) | 6/21 (29%) |
*Overall numbers exclude long indels.