Table 1.
Overview of whole-genome (WGS) and whole-exome (WES) sequencing of pineoblastoma
| Statistic | Whole exome | Whole genome |
|---|---|---|
| Tumor/tumor-normal pairs sequenced | 13 (tumor only) | 5 (2 primary + 3 mets) (tumor + matched germline) |
| Total Gb sequenced | 144.1 | 15.0 |
| Mean fold tumor target coverage | 174.4 | 32.8 |
| Mean fold normal target coverage | – | 36.4 |
| Mean number of exonic variants/mutations identified | 1544.9 | 121.4 |
| Mean number of nonsynonymous variants/mutations identified | 522.3 | 83.6 |
| Mean number of synonymous variants/mutations identified | 795.2 | 31.8 |
| Total number of validated nonsynonymous variants/mutations | 137 | 74 |