rewirebio.iobenchmarks
Dataset

Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)

Diagnostic bone-marrow aspirates of 101 patients with acute leukaemia (54 AML, 37 B-ALL, 8 T-ALL, 2 MPAL) with karyotyping, FISH or multiplex RT-PCR results.

Evaluation results

1 evaluation · 83 results. Different protocols are not a single leaderboard.

Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
80.8% Percent agreement (overall, 104 fusion detection results in 101 patients)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods' paragraph 1: 'The overall concordance rate between RNA-seq and conventional diagnostics was 80.8%.'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
21.4% False positive rate (overall, 56 fusion-negative results by conventional diagnostics; RNA-seq-only fusions counted as errors, though the authors describe several as well-known recurrent fusions and confirmed one by RT-PCR and Sanger sequencing)
percent · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods' paragraph 1: 'among 56 fusion-negative results based on conventional diagnostics, RNA-seq helped identify 12 fusion genes (21.4%, reflecting 1 – specificity)'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
83.3% Recall (overall, 48 fusions detected by conventional diagnostics)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods' paragraph 1: 'Of the 48 fusion genes detected using conventional diagnostics, RNA-seq helped identify 40 and missed eight (83.3% sensitivity)'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
86.4% Recall (AML patients, fusions detected by conventional diagnostics)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Discussion paragraph 2: 'with a fusion detection sensitivity of 83.3%, comparable across AML (86.4%) and B-ALL (87.0%)'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
87% Recall (B-ALL patients, fusions detected by conventional diagnostics)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Discussion paragraph 2: 'with a fusion detection sensitivity of 83.3%, comparable across AML (86.4%) and B-ALL (87.0%)'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
81% Percent agreement (BCR::ABL1 (conventional-positive; AML, B-ALL))
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'BCR::ABL1', column 'Concordance, %'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
16 Count (BCR::ABL1 (conventional-positive; AML, B-ALL))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'BCR::ABL1', column 'Number of fusions detected using conventional diagnostics'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
13 True positives (BCR::ABL1 (conventional-positive; AML, B-ALL))
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'BCR::ABL1', column 'Number of fusions detected using RNA-seq'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
100% Percent agreement (CBFB::MYH11 (conventional-positive; AML))
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'CBFB::MYH11', column 'Concordance, %'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
6 Count (CBFB::MYH11 (conventional-positive; AML))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'CBFB::MYH11', column 'Number of fusions detected using conventional diagnostics'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
6 True positives (CBFB::MYH11 (conventional-positive; AML))
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'CBFB::MYH11', column 'Number of fusions detected using RNA-seq'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
100% Percent agreement (DEK::NUP214 (conventional-positive; AML))
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'DEK::NUP214', column 'Concordance, %'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
1 Count (DEK::NUP214 (conventional-positive; AML))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'DEK::NUP214', column 'Number of fusions detected using conventional diagnostics'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
1 True positives (DEK::NUP214 (conventional-positive; AML))
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'DEK::NUP214', column 'Number of fusions detected using RNA-seq'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
0% Percent agreement (ETV6::NCOA2 (RNA-seq only; MPAL))
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using RNA-seq only', row 'ETV6::NCOA2', column 'Concordance, %'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
0 Count (ETV6::NCOA2 (RNA-seq only; MPAL))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using RNA-seq only', row 'ETV6::NCOA2', column 'Number of fusions detected using conventional diagnostics'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
1 Count (ETV6::NCOA2 (RNA-seq only; MPAL))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using RNA-seq only', row 'ETV6::NCOA2', column 'Number of fusions detected using RNA-seq'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
67% Percent agreement (ETV6::RUNX1 (conventional-positive; B-ALL))
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'ETV6::RUNX1', column 'Concordance, %'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
3 Count (ETV6::RUNX1 (conventional-positive; B-ALL))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'ETV6::RUNX1', column 'Number of fusions detected using conventional diagnostics'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
2 True positives (ETV6::RUNX1 (conventional-positive; B-ALL))
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using conventional diagnostics', row 'ETV6::RUNX1', column 'Number of fusions detected using RNA-seq'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
0% Percent agreement (FUS::ZNF362 (RNA-seq only; B-ALL))
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using RNA-seq only', row 'FUS::ZNF362', column 'Concordance, %'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
0 Count (FUS::ZNF362 (RNA-seq only; B-ALL))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using RNA-seq only', row 'FUS::ZNF362', column 'Number of fusions detected using conventional diagnostics'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
1 Count (FUS::ZNF362 (RNA-seq only; B-ALL))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using RNA-seq only', row 'FUS::ZNF362', column 'Number of fusions detected using RNA-seq'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
0% Percent agreement (HNRNPH1::ERG (RNA-seq only; AML))
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using RNA-seq only', row 'HNRNPH1::ERG', column 'Concordance, %'
Configuration: STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)Protocol: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Dataset: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
0 Count (HNRNPH1::ERG (RNA-seq only; AML))
count · unknown

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)

rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics

Aggregation: Not reported

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Table 2, section 'Fusion genes detected using RNA-seq only', row 'HNRNPH1::ERG', column 'Number of fusions detected using conventional diagnostics'

Source checking is not independent reproduction. Release 2026-10-22-1b7cf027e4f6.

Research readiness

0 of 4 readiness checks met. These checks assess whether the evidence supports a reproducible investigation; a source-checked score alone does not meet them.

Readiness checks, gaps and artifacts

Release 2026-10-22-1b7cf027e4f6 · Evidence verified: Not verified

Evidence incomplete

Replay metrics

Exact outcomes, predictions, identifiers and evaluator are connected.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified

Verified: Not verified

Evidence incomplete

Investigate discrepancies

Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified
  • Sample annotations are recorded: not yet verified
  • Dependence between samples is assessed: not yet verified

Verified: Not verified

Evidence incomplete

Run locally

A pinned recipe describes the inputs, environment and resource requirements.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • A pinned run recipe exists: not yet verified
  • Compute requirements are estimated: not yet verified

Verified: Not verified

Evidence incomplete

Validate independently

Separate data and exposure records support an independent test.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Independent validation data exist: not yet verified
  • Overlap with training data is checked: not yet verified

Verified: Not verified

Readiness describes the evidence in this release. Availability on your computer is checked separately when an investigation runs. Existing data exposure can prevent independent validation even when files are available.

Artifacts and reproduction

No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.

Dataset and evaluation context

A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.

Evidence

Source checking verifies the cited claim or transcription. It does not establish independent reproduction.

Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

6 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statementOriginal source and locationReview and provenance
Assay
Illumina Stranded mRNA Prep, NextSeq 550Dx or NovaSeq 6000, 2 x 150 bp; median 90 million reads (range 14 to 1,021 million)
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

Methods 'Patients and samples', 'RNA-seq and fusion gene detection'; Table 1

Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.assay

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Population
101 patients, September 2022 to September 2023; 104 fusion detection results
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

Methods 'Patients and samples', 'RNA-seq and fusion gene detection'; Table 1

Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

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Field: attributes.population

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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Inspected artifact

Source location
Methods 'Patients and samples', 'RNA-seq and fusion gene detection'; Table 1
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

Methods 'Patients and samples', 'RNA-seq and fusion gene detection'; Table 1

Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML
Retrieved: 2026-10-11T21:37:42Z

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Field: attributes.source_locator

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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Inspected artifact

Split
Retrospective clinical cohort
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

Methods 'Patients and samples', 'RNA-seq and fusion gene detection'; Table 1

Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML
Retrieved: 2026-10-11T21:37:42Z

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Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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Inspected artifact

Description
Diagnostic bone-marrow aspirates of 101 patients with acute leukaemia (54 AML, 37 B-ALL, 8 T-ALL, 2 MPAL) with karyotyping, FISH or multiplex RT-PCR results.
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

Methods 'Patients and samples', 'RNA-seq and fusion gene detection'; Table 1

Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML
Retrieved: 2026-10-11T21:37:42Z

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Field: description

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Name
Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

Methods 'Patients and samples', 'RNA-seq and fusion gene detection'; Table 1

Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

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Field: name

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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Inspected artifact

Sources and history

Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

1 source record and release historyDownload this release (gzip)
Technical metadata and extraction receipts

Stable ID: rna-fusion-leukaemia-20261011-data-smc-acute-leukaemia

areas
rna-transcriptomes
contexts
clinical_research
population
101 patients, September 2022 to September 2023; 104 fusion detection results
assay
Illumina Stranded mRNA Prep, NextSeq 550Dx or NovaSeq 6000, 2 x 150 bp; median 90 million reads (range 14 to 1,021 million)
split
Retrospective clinical cohort
source locator
Methods 'Patients and samples', 'RNA-seq and fusion gene detection'; Table 1
missing metadata
accession: reason: unreported; version: reason: inapplicable
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