Table 1 Mosaic variant detection by EM-Mosaic and MosaicHunter and validated by PCR product sequencing
From: EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
| Â | Union | Shared | Unique | |
|---|---|---|---|---|
EM-Mosaic | MosaicHunter | |||
High-confidence mosaic variants* | 332 | 57 | 240 | 35 |
Mosaic candidates | 367 | 58 | 251 | 58 |
Mosaic candidate VAF mean (SD) | 0.13 (0.06) | 0.12 (0.05) | 0.13 (0.06) | 0.10 (0.05) |
MiSeq confirmation | ||||
 Total tested | 143 | 22 | 75 | 46 |
 Mosaic | 108 | 21 | 64 | 23 |
 Germline | 3 | 0 | 3 | 0 |
 No variant | 32 | 1 | 8 | 23 |
Validation rate | 76% | 95% | 85% | 50% |