Total number of SNVs identified and validated in our dataset of 20 AMLs using either the SomaticSniper or the MuTect bioinformatics pipeline
| Frequencies . | All mutations . | Mutations with VAFs ≥10% . | Mutations with VAFs between 2% and 10% . | ||||||
|---|---|---|---|---|---|---|---|---|---|
| All . | Tested . | Validated, n (%) . | x ≥10% . | Tested . | Validated, n (%) . | x <10% . | Tested . | Validated, n (%) . | |
| SomaticSniper-ALL | 194 | 94 | 84 (89) | 194 | 94 | 84 (89) | 0 | 0 | 0 |
| MutTect-ALL | 463 | 157 | 143 (91) | 245 | 97 | 95 (98) | 218 | 60 | 48 (80) |
| COMMON | 161 | 80 | 78 (98) | 161 | 80 | 78 (98) | 0 | 0 | 0 |
| SomaticSniper-ONLY | 33 | 14 | 6 (43) | 33 | 14 | 6 (43) | 0 | 0 | 0 |
| MuTect-ONLY | 302 | 77 | 65 (84) | 84 | 17 | 17 (100) | 218 | 60 | 48 (80) |
| Total (SomaticSniper+MuTect) | 496 | 171 | 149 (87) | 278 | 111 | 101 (91) | 218 | 60 | 48 (80) |
| Frequencies . | All mutations . | Mutations with VAFs ≥10% . | Mutations with VAFs between 2% and 10% . | ||||||
|---|---|---|---|---|---|---|---|---|---|
| All . | Tested . | Validated, n (%) . | x ≥10% . | Tested . | Validated, n (%) . | x <10% . | Tested . | Validated, n (%) . | |
| SomaticSniper-ALL | 194 | 94 | 84 (89) | 194 | 94 | 84 (89) | 0 | 0 | 0 |
| MutTect-ALL | 463 | 157 | 143 (91) | 245 | 97 | 95 (98) | 218 | 60 | 48 (80) |
| COMMON | 161 | 80 | 78 (98) | 161 | 80 | 78 (98) | 0 | 0 | 0 |
| SomaticSniper-ONLY | 33 | 14 | 6 (43) | 33 | 14 | 6 (43) | 0 | 0 | 0 |
| MuTect-ONLY | 302 | 77 | 65 (84) | 84 | 17 | 17 (100) | 218 | 60 | 48 (80) |
| Total (SomaticSniper+MuTect) | 496 | 171 | 149 (87) | 278 | 111 | 101 (91) | 218 | 60 | 48 (80) |
For each category, we report the number of SNVs that have been tested and validated on the same DNAs. Rows from top: total number of mutations identified by each of the 2 different pipelines (ALL), number of mutations identified by both pipelines (COMMON), number of mutations uniquely identified by 1 of the 2 pipelines (ONLY). The validations have been performed through MiSeq, Ion Torrent, and Sanger sequencing and we considered validated every variant that was confirmed by at least 1 validation method.