Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
Per-fusion and overall detection of fusions by Arriba-based whole RNA-seq compared with karyotyping, FISH and multiplex RT-PCR.
Overview
An explanatory profile has not yet been reviewed for this record.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
1 recorded evaluation, 83 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
Results are available, but no reviewed comparison panel is linked in this release.
All evaluations
1 evaluation · 83 results. Different protocols are not a single leaderboard.
Filter evaluations
Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence 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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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 checkedMethods, coverage and sourcerna-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.
Methods and evaluation design
Procedure, tasks and evaluated configurations
Recorded evaluations
Each evaluation records what was tested and under which conditions.
Baseline coverage
Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.
0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.
No execution recipe linked to this protocol. Recipe availability does not establish a completed evaluation.
- External evaluations
- 1
Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.
Null control
Proposed control: requires review
Select a task-valid null control after reviewing inputs and metric
Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.
This is a suggested selection rule, not a validated method or a measured score.
Conventional reference
Proposed control: requires review
Select an upstream conventional reference after reviewing the full protocol
Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.
This is a suggested selection rule, not a validated method or a measured score.
Protocol coverage CSV (gzip) · Model evaluation matrix (gzip) · Source table (gzip) · Release and checksums (gzip)
Coverage is derived from release 2026-10-22-1b7cf027e4f6. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.
Run instructions
No runnable recipe has been reviewed for this protocol. Dataset access, model requirements, licences and compute requirements must be checked against its sources before execution.
Strengths, limitations and unresolved questions
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.
1 evidence row matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Name Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026) Individual claims | Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia Crossref record for 10.3343/alm.2025.0300 (volume 46, issue 3, pages 257-269, print 2026-05-01); Lin et al. 2026 dataset records (mean 1.4 M and 11.2 M reads) Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | source checked ["automated-source-review"] · 2026-10-12 Audit detailsCorrect the citation year for Kim et al. (Ann Lab Med 2026;46(3):257-269, published online 2025-10-16) and the Lin depth ratio (1.4 M against 11.2 M mean reads is about one eighth, not one tenth). Historical releases retain the previous value. Independent review 2026-10-12: correct as made. Field: Claim: metadata-correction-qa-20261012-666876c897a303a6c8d8 Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
1 source record and release history
- Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia · Original source · Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML
Technical metadata and extraction receipts
Stable ID: rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics
- areas
- rna-transcriptomes
- contexts
- clinical_research
- protocol
- Each patient's fusion status by conventional diagnostics (karyotyping, FISH, multiplex RT-PCR HemaVision) compared with RNA-seq calls; sensitivity over conventional-positive fusions, 1 - specificity over conventional-negative results, and overall concordance over 104 results.
- version
- Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'
- metric
- recall
- denominator
- 48
- limitations
- One workflow (Arriba with manual review) compared with conventional diagnostics; no other caller is evaluated, so this is not a caller comparison.; Truth is conventional diagnostics (karyotyping, FISH, multiplex RT-PCR), which miss some fusions: the 12 RNA-seq-only fusions count against specificity, although the authors describe several as well-known recurrent fusions and confirmed one of them (MLLT10::UBE2L6) by RT-PCR and Sanger sequencing (Figure 1); validation was attempted only for novel or rare fusions with residual sample.; Missed fusions are attributed by the authors to low blast proportion, subclonality, poor aspirates, complex rearrangements or enhancer hijacking, not to the caller alone.; Single centre, acute leukaemia only (adult and paediatric); 48 conventional-positive fusions; no interval estimates.; Every call was manually reviewed in IGV, so the false-call burden of raw Arriba output is not measured.; Per-patient results (Supplemental Data Tables S2 and S3) and Supplemental Figure S1 were not retrieved; the AML (86.4%) and B-ALL (87.0%) sensitivities are printed only in the Discussion, without denominators.
- source locator
- Methods 'Conventional diagnostics', 'Statistical analysis'; Table 2; Results
Related records
- uses data: Samsung Medical Center acute leukaemia bone-marrow whole RNA-seq, 101 patients (2022-2023)
- subject: Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026): name
- assessment: Arriba v2.4.0 with IGV review against conventional diagnostics in 101 acute leukaemia patients (Kim et al. 2026)
- assessed by: Select a tumour RNA fusion-detection workflow