Table 1.
Range of metrics observed for pathogenic splicing events
|
Tissue |
|||
|---|---|---|---|
| Metric | Whole blood (n = 3) | LCLs (n = 7) | Skeletal muscle (n = 11) |
| Read count | 2–40 | 4–38 | 2–462 |
| NRC | 0.48–1.25 | 0.19–1.52 | 0.34–3.19 |
| NRC fold change | singletons | 3.7–8.2 + singletons | 19.6–442 + singletons |
| Number of samples | 1 | 1–48 | 1–110 |
| Rank | 2-5 | 10–232 | 1–342 |
| FRASER events identified | 3/3 | 4/7 | 10/11 |
| FRASER p values | 7.97 × 10−11–0.0022 | 2.36 × 10−5–0.13182 | 4.27 × 10−13–0.0160 |
| LeafCutterMD events identified | 3/3 | 2/7 | 7/11 |
| LeafCutterMD p values | 6.19 × 10−11–0.00936 | 7.66 × 10−6–0.586 | 2.2 × 10−15–1.35 × 10−3 |
| SPOT events identified | 3/3 | 6/7 | 7/11 |
| SPOT p values | 0.000181–0.0426 | 1 × 10−6–0.13582 | 0.00469–0.0159 |