Table 1.
Diagnostic performance of our integrated pipeline.
| Condition | Cases | TP | FP | FN | PPV% | NPV% |
|---|---|---|---|---|---|---|
| Duplication > 1 mb | 8 | 7 | 1 | 0 | 87.5 | 100 |
| Deletion > 1 mb | 3 | 3 | 0 | 0 | 100 | 100 |
| T21 | 9 | 9 | 0 | 0 | 100 | 100 |
| T22 | 1 | 1 | 0 | 0 | 100 | 100 |
| T15 | 1 | 1 | 0 | 0 | 100 | 100 |
| T9 | 1 | 1 | 0 | 0 | 100 | 100 |
| T13 | 1 | 1 | 0 | 0 | 100 | 100 |
| T7 | 1 | 1 | 0 | 0 | 100 | 100 |
| XXX | 1 | 1 | 0 | 0 | 100 | 100 |
| XYY | 1 | 1 | 0 | 0 | 100 | 100 |
Note: This table summarizes the performance of our diagnostic pipeline using WisecondorX and NIPTeR algorithms for detecting various chromosomal anomalies in 1225 samples. The table provides a breakdown of cases for each condition along with true positive (TP), false positive (FP), false negative (FN), positive predictive value (PPV%), and negative predictive value (NPV%).