Table 1. Summary of the variants found in this study and their validation rate.
Heterochromatic (0.9 Mb called) | ampliconic and X-degenerate (11.6 Mb called) | |||
---|---|---|---|---|
Recurrent mutations | Non recurrent mutations | Recurrent mutations | Non recurrent mutations | |
SNPs | 7415 (35.7%) | 5113 (33.1%) | 1730 (31.7%) | 5785 (28.0%) |
Deletions | 295 (21.0%) | 204 (17.7%) | 569 (17.1%) | 651 (20.0%) |
Insertions | 236 (22.9%) | 184 (13.6%) | 298 (10.4%) | 609 (21.4%) |
Complex | 0 | 0 | 53 (5.6%) | 74 (2.7%) |
STRs | 510 (12.2%) | 383 (14.4%) | 490 (29.6%) | 798 (24.1%) |
In silico validation rate | ||||
SNPs | 0.65 | 0.99 | 0.59 | 0.99 |
Deletions | 0.61 | 0.99 | 0.43 | 0.92 |
Insertions | 0.64 | 0.99 | 0.61 | 0.97 |
Complex | NA | NA | 0.60 | 0.94 |
STRs | 0.69 | 0.99 | 0.69 | 0.98 |