Table 2.
Sample | Known (Gold) fusion genes | FS | SF | dF | FH | FM | THF |
---|---|---|---|---|---|---|---|
NCI-H660 (2) | TMPRSS2-ERG | ● | ● | ● | ● | ● | ● |
EEF2-SLC25A42 | ● | ● | ● | ● | - | ● | |
TP/FP | 2/0 | 2/16 | 2/11 | 2/1 | 1/1 | 2/1 | |
Precision | 1.0 | 0.11 | 0.15 | 0.67 | 0.50 | 0.67 | |
Recall | 1.0 | 1.0 | 1.0 | 1.0 | 0.50 | 1.0 | |
K562 (3) | BCR-ABL1 | ● | ● | ● | - | ● | ● |
NUP214-XKR3 | ● | ● | ○ | ● | ● | ● | |
BAT3-SLC44A4 | ● | ● | ○ | - | ● | ● | |
TP/FP | 3/1 | 3/7 | 3/27 | 1/1 | 3/12 | 3/0 | |
Precision | 0.75 | 0.30 | 0.10 | 1.0 | 0.20 | 1.0 | |
Recall | 1.0 | 1.0 | 1.0 | 0.33 | 1.0 | 1.0 | |
MCF-7 (23) | USP31-CRYL1 | ● | ● | ○ | ○ | ○ | ● |
ARFGEF2-SULF2 | ● | ● | ○ | - | ○ | ● | |
TXLNG-SYAP1 | ● | ● | ● | - | ○ | ● | |
DEPDC1B-ELOVL7 | ● | ● | ● | ○ | ● | ● | |
SYTL2-PICALM | ● | ● | ● | ○ | ● | ● | |
RPS6KB1-DIAPH3 | - | ● | ● | - | - | - | |
AHCYL1-RAD51C | - | ● | - | ● | ● | ● | |
TAF4-BRIP1 | - | ● | - | - | ○ | - | |
POP1-MATN2 | ● | ● | ● | - | ○ | - | |
GCN1L1-MSI1 | ● | ● | ● | - | - | ● | |
ESR1-CCDC170 | ● | ● | ● | ● | ○ | ● | |
SMARCA4-CARM1 | ● | ● | ● | - | ○ | ● | |
MYO6-SENP6 | ● | ● | ● | ● | ○ | ● | |
ADAMTS19-SLC27A6 | ● | ● | ● | ● | ○ | ● | |
GATAD2B-NUP210L | - | ● | ● | - | ○ | ● | |
SLC25A24-NBPF6 | ● | ● | ● | - | ● | - | |
ATXN7L3-FAM171A2 | ● | ● | ● | - | ● | - | |
C16orf62-IQCK | ● | ● | ● | - | ● | ● | |
TBL1XR1-RGS17 | ● | - | - | - | - | ||
BCAS4-BCAS3 | ● | ● | ● | ● | - | ● | |
RPS6KB1-TMEM49 | ● | ● | ● | - | ○ | ● | |
ABCA5-PPP4R1L | - | ● | - | - | - | - | |
C16orf45-ABCC1 | - | - | - | - | - | - | |
TP/FP | 17/14 | 21/83 | 18/132 | 8/11 | 17/126 | 15/26 | |
Precision | 0.55 | 0.18 | 0.12 | 0.42 | 0.12 | 0.37 | |
Recall | 0.74 | 0.91 | 0.78 | 0.35 | 0.74 | 0.65 | |
Overall | Precision | 0.60 | 0.20 | 0.12 | 0.46 | 0.13 | 0.43 |
Recall | 0.79 | 0.93 | 0.82 | 0.39 | 0.75 | 0.71 | |
F1 score | 0.68 | 0.33 | 0.21 | 0.42 | 0.22 | 0.53 | |
Mapping program | SSAHA2 | SOAP2 | GMAP | Bowtie | GSNAP | Bowtie | |
BWA | |||||||
Transcriptome | RefGene | Ensembl | Ensembl | RefGene | RefGene | Ensembl |
‘●’ and ‘○’ indicate that the case was predicted successfully, with direction reversed in ‘○’. Precision = TP/(TP + FP), Recall = TP/(TP + FN), F1 score = 2 × precision×recall/(precision + recall).
FS, FusionScan; SF, SOAPfuse; dF, defuse; FH, FusionHunter; FM, FusionMap; THF, TopHat-Fusion; TP, true-positive; FP, false-positive; FN, false-negative.