rewirebio.iobenchmarks
Evidence claim

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.

1 reviewed evaluation

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

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statementOriginal source and locationReview and provenance
Citation locations
1 values
  • 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
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.citation_locators

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

Comparison group
kim2025-leukaemia
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.comparison_group

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

Constraints
2 values
  • 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.
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.constraints

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

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

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.endpoint

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

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

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.field

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

Headline metric
recall
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.headline_metric

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

Limitations
6 values
  • 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.
Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.limitations

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

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Context-only references
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.pins

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

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

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.rationale

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

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

Original source ↗

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
Retrieved: 2026-10-11T21:37:42Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.reason

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

Inspected artifact

How to read the evidence

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: 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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