Table 1.
Genome-wide deletion evaluation against GIAB NA24385 benchmark
| Aquila_stLFR | GROC-SVs | NAIBR | ||
|---|---|---|---|---|
| 50–1k | Benchmark | 3671 | ||
| Total call | 11 495 | 0 | 10 | |
| True positive | 2954 | 0 | 0 | |
| False positive | 8541 | 0 | 10 | |
| False negative | 717 | 3584 | 3584 | |
| Precision | 25.7% | NAN | NAN | |
| Recall | 80.5% | 0% | 0% | |
| 1k–10k | Benchmark | 499 | ||
| Total call | 602 | 0 | 157 | |
| True positive | 317 | 0 | 119 | |
| False positive | 285 | 0 | 38 | |
| False negative | 182 | 499 | 380 | |
| Precision | 52.7% | NAN | 75.8% | |
| Recall | 63.5% | 0% | 23.8% | |
| >10k | Benchmark | 29 | ||
| Total call | 105 | 35 | 218 | |
| True positive | 6 | 6 | 24 | |
| False positive | 99 | 29 | 194 | |
| False negative | 23 | 23 | 5 | |
| Precision | 5.7% | 17.1% | 11.0% | |
| Recall | 20.7% | 20.7% | 82.8% | |