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Configuration

STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)

STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review: Whole RNA-seq fusion workflow.

1 evaluation · 83 results

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.

Evaluations and 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.

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Evidence

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

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1 evidence row matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statementOriginal source and locationReview and provenance
Name
STAR 2.7.7a and Arriba v2.4.0 high-confidence calls with manual IGV review (Kim et al. 2026)
Individual claims
Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia

Original source ↗

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

source checked

["automated-source-review"] · 2026-10-12

Audit details

Correct 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: name

Claim: metadata-correction-qa-20261012-728c4bbbf59e272982e7

Source artifact SHA-256: 4d3a6d48fc107763bffe18ff7dbcb6ab97b86757e69ff89ae595f3243f30bad1

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

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-config-arriba-2-4-0-igv-review

areas
rna-transcriptomes
contexts
clinical_research
method types
conventional_pipeline
reported name
Arriba
version
v2.4.0
foundation model eligible
false
parameters
Trimmomatic 0.39; STAR 2.7.7a to GRCh37; Arriba v2.4.0 keeping high-confidence in-frame fusions and high-confidence fusions involving MECOM, IGH, IGK, IGL, TRA, TRB, TRD or TRG; every call manually checked in IGV 2.16.0
access reuse
Public open-source software plus manual review
source locator
Methods 'RNA-seq and fusion gene detection'
provenance note
Whole RNA-seq fusion workflow as run in the cited clinical comparison.
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