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Variants detected by next-generation sequencing.
| Sample, n |
Total variants (unfiltered), n |
Filtered variants, n | |||
|---|---|---|---|---|---|
| Known pathogenic variants |
VUS | Base-calling errora |
Total | ||
| CF, 24 | 180 | 45 | 2 | 2 | 49 |
| Carrier, 46 | 298 | 45 | 3 | 0 | 48 |
| Normal, 9 | 37 | 0 | 1 | 0 | 1 |
| Total, 79 | 515 | 90 | 6 | 2 | 98 |
Due to a homopolymer-length sequencing error (7:117232266CA>C) leading to the 2184delA false-positive call.
