Relevance of Acute leukaemia whole RNA-seq against conventional diagnostics (Kim et al. 2026) to "Select a tumour RNA fusion-detection workflow"
- Use case
- Select a tumour RNA fusion-detection workflow
- Assessed by
- Acute leukaemia whole RNA-seq fusion detection against conventional diagnostics (Kim et al. 2026)
- Relevance
- Direct evidence
- Endpoint
- Sensitivity, 1 - specificity and concordance of an Arriba-based whole RNA-seq workflow with manual review against karyotyping, FISH and RT-PCR, overall, by subtype and per fusion
Real patient specimens scored against orthogonal clinical assays, not against the workflow's own calls, measure the sensitivity the use case asks about without the ascertainment bias the use case names as a gap; only one workflow is evaluated.
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.
17 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
Citation locations1 values
| Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Comparison group kim2025-leukaemia Context-only references | Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Constraints2 values
| Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Endpoint Sensitivity, 1 - specificity and concordance of an Arriba-based whole RNA-seq workflow with manual review against karyotyping, FISH and RT-PCR, overall, by subtype and per fusion Context-only references | Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Claimed field links:assessed_by:rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics Context-only references | Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Headline metric recall Context-only references | Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Limitations6 values
| Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Pinned records87 values
| Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Rationale Real patient specimens scored against orthogonal clinical assays, not against the workflow's own calls, measure the sensitivity the use case asks about without the ascertainment bias the use case names as a gap; only one workflow is evaluated. Context-only references | Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Reason Add a relevance judgement from the 2026-10-11 oncology use-case literature pass. Context-only references | Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3 Version: Annals of Laboratory Medicine 46(3), epub 2025-10-16; PMC13071280 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: 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: use-case-mapping-rna-fusion-leukaemia-20261011-conventional-diagnostics
- field
- links:assessed_by:rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics
- value
- rna-fusion-leukaemia-20261011-protocol-conventional-diagnostics
- relevance
- direct
- endpoint
- Sensitivity, 1 - specificity and concordance of an Arriba-based whole RNA-seq workflow with manual review against karyotyping, FISH and RT-PCR, overall, by subtype and per fusion
- rationale
- Real patient specimens scored against orthogonal clinical assays, not against the workflow's own calls, measure the sensitivity the use case asks about without the ascertainment bias the use case names as a gap; only one workflow is evaluated.
- constraints
- Inspect every linked evaluation's source locator before citing a result.; Do not combine this mapping's evaluations with any other protocol's results; truth sets, specimens, sequencing and caller versions differ between sources.
- 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.
- citation locators
- source id: rna-fusion-leukaemia-20261011-source-kim2025; locator: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3
- source locator
- rna-fusion-leukaemia-20261011-source-kim2025: Methods 'RNA-seq and fusion gene detection', 'Statistical analysis'; Table 2; Results 'Fusion gene detection performance of RNA-seq compared with that of conventional diagnostic methods'; Discussion paragraphs 2-3
- headline metric
- recall
- reason
- Add a relevance judgement from the 2026-10-11 oncology use-case literature pass.
- comparison group
- kim2025-leukaemia
- comparison title
- Arriba whole RNA-seq against conventional diagnostics in acute leukaemia (Kim et al. 2026)
- stratum label
- Acute leukaemia, 101 patients
- stratum order
- 1
- reviewed evaluations
- rna-fusion-leukaemia-20261011-eval-arriba-conventional-diagnostics
- review
- method: ai-assisted-source-review; scope-review; method note: Reviewer checked the endpoint against the use case's inputs and output, the relevance rating and the limitations; every evaluation on the protocol had its values checked in the batch review. Corrections listed in review.md were applied by the extractor.; reviewer: claude; reviewer note: Claude research agent reviewer-onc-2, independent of the extractor uc-oncology; no human review claimed; reviewed at: 2026-10-11T23:30:00Z; note: Automated review; not human scientific review. See docs/reviews/use-cases/tumour-rna-fusion-detection-2026-10-11.md.
- pins
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