Table 1 Summary of in vitro validation of novel SV calls
| Â | Validated | Not validated | Min size (bp) | Max size (bp) | Validation rate (%) | Methods |
|---|---|---|---|---|---|---|
DEL | 31 | 5 | 401 | 13,572 | 86.1 | PCR/ddPCR |
DUP | 27 | 3 | 1897 | 30,370 | 90.0 | ddPCR |
INV | 7 | 2 | 141 | 1568 | 77.8 | PCR/Sanger sequencing/PacBio |