Table 2.
The performance of SENSV, NanoVar, Sniffles, SVIM and cuteSV on detecting SVs in HG002 with breakpoint precision of 100 bp and 2000 bp respectively.
| Short deletions (< 100 kbp) | Long deletion (> 100 kbp) | |||
|---|---|---|---|---|
|
# of confirmed SV detected ± 100 bp (± 2000 bp) |
Sensitivity ± 100 bp (± 2000 bp) |
# of confirmed SV detected ± 100 bp (± 2000 bp) |
Sensitivity ± 100 bp (± 2000 bp) |
|
| SENSV | 389 (431) | 73.26% (81.17%) | 1 (1) | 100% (100%) |
| NanoVar | 353 (381) | 66.48% (71.75%) | 0 (0) | 0% (0%) |
| Sniffles | 269 (313) | 50.66% (58.95%) | 0 (0) | 0% (0%) |
| SVIM | 378 (427) | 71.19% (80.41%) | 1 (1) | 100% (100%) |
| cuteSV | 272 (294) | 51.22% (55.38%) | 0 (0) | 0% (0%) |
The benchmark set of HG002 contains 531 confirmed short deletions with size of smaller than 100 kbp and one long deletion with size of larger than 100 kbp. The sensitivity inside the paratheses is measured with the relaxed breakpoint precision of 2000 bp.
The best results of a row are in bold.