TABLE 1.
summary of the number of variants, divided by category, identified by the Dragen tools (single sample and trio analysis for the de novo variants), DNM2 and spliceAI tools.
| Rohhad #156 | Rohhad #203 | ||||||
|---|---|---|---|---|---|---|---|
| Affected | Mother | Father | Affected | Mother | Father | ||
| Dragen | total variants | 4,910,681 (100%) | 4,860,824 (100%) | 4,875,654 (100%) | 5,092,745 (100%) | 5,071,664 (100%) | 4,946,481 (100%) |
| SNPs | 4,102,454 (83.54%) | 4,057,354 (83.47%) | 4,064,660 (83.37%) | 4,137,725 (81.25%) | 4,125,598 (81.35%) | 4,040,536 (81.69%) | |
| Indels (Het) | 11,149 (0.23%) | 11,010 (0.23%) | 11,317 (0.23%) | 20,857 (0.41%) | 20,380 (0.4%) | 17,545 (0.35%) | |
| Insertions (Hom) | 158,994 (3.24%) | 159,895 (3.29%) | 152,922 (3.14%) | 175,017 (3.44%) | 177,160 (3.44%) | 167,478 (3.39%) | |
| Insertions (Het) | 227,803 (4.64%) | 225,599 (4.64%) | 237,066 (4.86%) | 301,812 (5.93%) | 313,369 (6.08%) | 280,922 (5.68%) | |
| Deletions (Hom) | 143,649 (2.93%) | 143,486 (2.95%) | 136,342 (2.80%) | 148,859 (2.92%) | 143,220 (2.78%) | 149,622 (3.02%) | |
| Deletions (Het) | 266,632 (5.43%) | 263,480 (5.42%) | 273,347 (5.61%) | 308,475 (6.06%) | 311,344 (6.04%) | 290,378 (5.87%) | |
| De novo Autosome SNPs | 320 | 544 | |||||
| De novo Autosome INDELs | 257 | 347 | |||||
| DNM2 tool | De Novo variant | 70 | 86 | ||||
| Shared with Dragen | 54 | 62 | |||||
| SpliceAI | Splicing var (>0.5) | 30 | 42 | ||||
| Splicing var (>0.5) De Novo | 2 | 4 | |||||