Table 3 The user recommendation table
DEL and INS (p = 0 P = 0.5 r = 500 O = 0) (Pacbio) | size range | SV type | top1 | top2 | top3 | top4 | top5 |
50 bp–1 kb | DEL | cuteSV | Sniffles2 | MAMnet | Sniffles | SVIM | |
INS | SKSV | INSnet | MAMnet | PAV | cuteSV | ||
1 kb–10 kb | DEL | cuteSV | PAV | DeBreak | SKSV | Smartie-sv_asm | |
INS | PAV | SKSV | Smartie-sv_asm | SVIM-asm | pbsv | ||
≥10 kb | DEL | SKSV | cuteSV | SVIM | SVIM-asm | PAV | |
INS | Dipcall | PAV | DeBreak | SVIM-asm | Smartie-sv_asm | ||
≥50 bp | DEL | cuteSV | DeBreak | Sniffles | SKSV | MAMnet | |
INS | SKSV | INSnet | PAV | MAMnet | cuteSV | ||
coverage | SV type | top1 | top2 | top3 | top4 | top5 | |
5× | DEL | MAMnet | pbsv | PBHoney | Sniffles2 | Smartie-sv_aln | |
INS | MAMnet | Sniffles2 | pbsv | Smartie-sv_aln | NanoSV | ||
10× | DEL | MAMnet | pbsv | PBHoney | Sniffles2 | Smartie-sv_aln | |
INS | MAMnet | Sniffles2 | Smartie-sv_aln | Smartie-sv_asm | PAV | ||
20× | DEL | DeBreak | Sniffles2 | MAMnet | PAV | pbsv | |
INS | DeBreak | MAMnet | PAV | Sniffles2 | SVIM-asm | ||
≥30× | DEL | DeBreak | MAMnet | Sniffles2 | PAV | cuteSV | |
INS | DeBreak | MAMnet | Sniffles2 | INSnet | PAV | ||
Complex SV (TRA, INV and DUP) (Pacbio) | data type | SV type | top1 | top2 | top3 | top4 | top5 |
Simulation data (Hifi/CLR) | TRA | NanoSV/cuteSV | cuteSV/pbsv | pbsv/NanoSV | SVIM/SVIM | SKSV/NanoVar | |
INV | NanoVar/Sniffles2 | SVIM/cuteSV | cuteSV/SVIM | Sniffles/NanoVar | Sniffles2/Sniffles | ||
DUP | pbsv/pbsv | DeBreak/NanoVar | NanoVar/Sniffles2 | Sniffles2/DeBreak | SVision/NanoSV | ||
data type | SV type | top1 | top2 | top3 | top4 | top5 | |
Real cancer data (CLR) | TRA | pbsv | cuteSV | Sniffles | Sniffles2 | SVIM | |
INV | pbsv | SVIM | Sniffles2 | SVIM-asm | DeBreak | ||
DUP | DeBreak | Sniffles2 | Sniffles | cuteSV | pbsv | ||
DEL and INS (p = 0 P = 0.5 r = 500 O = 0) (ONT) | size range | SV type | top1 | top2 | top3 | top4 | top5 |
5 bp–1 kb | DEL | PAV | cuteSV | SVIM | SVIM-asm | SVision | |
INS | MAMnet | DeBreak | cuteSV | Sniffles2 | PAV | ||
1 kb–10 kb | DEL | DeBreak | PAV | Sniffles | Sniffles2 | cuteSV | |
INS | DeBreak | cuteSV | PAV | MAMnet | Sniffles2 | ||
≥10 kb | DEL | SVision | Sniffles | cuteSV | DeBreak | Sniffles2 | |
INS | DeBreak | cuteSV | PAV | MAMnet | SVision | ||
≥50 bp | DEL | PAV | cuteSV | SVIM | SVIM-asm | SVision | |
INS | cuteSV | MAMnet | DeBreak | Sniffles2 | PAV | ||
coverage | SV type | top1 | top2 | top3 | top4 | top5 | |
5× | DEL | Sniffles2 | NanoVar | PAV | Smartie-sv_aln | DeBreak | |
INS | Sniffles2 | PAV | NanoVar | NanoSV | DeBreak | ||
10× | DEL | Sniffles2 | DeBreak | NanoVar | SVIM-asm | SVision | |
INS | Sniffles2 | DeBreak | SVIM-asm | SVision | NanoSV | ||
20× | DEL | PAV | Sniffles2 | SVision | MAMnet | SVIM-asm | |
INS | MAMnet | DeBreak | Sniffles2 | PAV | SVIM-asm | ||
≥30× | DEL | PAV | SVIM-asm | Sniffles2 | cuteSV | SVIM | |
INS | MAMnet | DeBreak | Sniffles2 | PAV | cuteSV | ||
Complex SV (TRA, INV, and DUP) (ONT) | data type | SV type | top1 | top2 | top3 | top4 | top5 |
Simulation data (ONT) | TRA | cuteSV | NanoSV | SVIM | NanoVar | SVIM-asm | |
INV | NanoVar | SVIM | cuteSV | Sniffles2 | Sniffles | ||
DUP | NanoVar | SVision | Sniffles2 | DeBreak | cuteSV | ||
data type | SV type | top1 | top2 | top3 | top4 | top5 | |
Real cancer data (ONT) | TRA | NanoSV | Sniffles2 | NanoVar | SVIM-asm | cuteSV | |
INV | NanoSV | Sniffles2 | Debreak | SVIM-asm | NanoVar | ||
DUP | Debreak | NanoVar | Sniffles2 | SVision | NanoSV | ||
Overall performance across datasets for DEL and INS (p = 0 P = 0.5 r = 500 O = 0) | Data type | SV type | top1 | top2 | top3 | top4 | top5 |
Hifi | DEL | DeBreak | Sniffles2 | PAV | SVIM-asm | pbsv | |
INS | DeBreak | PAV | INSnet | MAMnet | SVIM-asm | ||
CLR | DEL | cuteSV | DeBreak | Sniffles2 | pbsv | Sniffles | |
INS | DeBreak | MAMnet | cuteSV | SVIM-asm | INSnet | ||
Nano | DEL | cuteSV | SVIM | Sniffles2 | MAMnet | SVIM-asm | |
INS | cuteSV | MAMnet | DeBreak | Sniffles2 | INSnet | ||
Data type | SV type | top1 | top2 | top3 | top4 | top5 | |
Hifi gt | DEL | PAV | Sniffles2 | SVIM-asm | pbsv | cuteSV | |
INS | PAV | SVIM-asm | cuteSV | Sniffles2 | DeBreak | ||
CLR gt | DEL | cuteSV | Sniffles2 | pbsv | DeBreak | SVIM | |
INS | cuteSV | DeBreak | SVIM-asm | PAV | Sniffles2 | ||
Nano gt | DEL | cuteSV | Sniffles2 | SVIM | SVIM-asm | DeBreak | |
INS | cuteSV | Sniffles2 | DeBreak | SVIM-asm | PAV |