Table 1.
SV calling performance on HG002
| SV type | Count | TR count | ONT validated | Sensitivity (%) | Precision (%) |
|---|---|---|---|---|---|
| Deletion | 6410 | 2780 | 95% (2947/3113) | 95.0 | 91.9 |
| Insertion | 9252 | 5431 | 87% (3438/3930) | 92.0 | 93.8 |
| Complex deletion | 1487 | 327 | 72% (150/207) | NA | NA |
| Complex insertion | 1655 | 653 | 74% (147/198) | NA | NA |
| Complex | 112 | 54 | NA | NA | NA |
Note: ‘TR count’ shows the number of SVs for which >80% of the sequence was identified as TR by RepeatMasker and ‘ONT validated’ shows the percent supported by at least one Oxford Nanopore read. Sensitivity and precision values are reported against the GIAB Tier 1 benchmarking dataset.