Table 1.
Benchmark results for the three COLO829 data sets based on the reference genome
| Data set | Version | P | TP | FP | FN | Precision | Recall |
|---|---|---|---|---|---|---|---|
| COLO829-GRCh38 | Initial | 62 | 42 | 7 | 20 | 85.71% | 67.74% |
| Genotyped/IGV | 54 | 49 | 1 | 5 | 98.00% | 90.74% | |
| COLO829-T2T | Initial | 62 | 41 | 8 | n/a | 83.67% | n/a |
| Genotyped/IGV | n/a | 49 | 0 | n/a | 100.00% | n/a | |
| COLO829-lifted | Initial | 62 | 46 | 7 | 16 | 86.79% | 74.19% |
| Genotyped/IGV | 54 | 53 | 0 | 1 | 100.00% | 98.15% |
-
For each data set, we present the initial evaluation (labeled Initial) and the in-depth analysis/evaluation that includes genotyping, and manual inspection in IGV.
