Paediatric B-ALL nanopore WTS, low-depth cohort, dominant-fusion classification (Lin et al. 2026 Table 6)
Per-sample sensitivity, specificity, precision and F1 of four long-read fusion callers, low-depth cohort.
Overview
Per-sample sensitivity, specificity, precision and F1 of four long-read fusion callers, low-depth cohort.
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4 recorded evaluations, 16 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
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All evaluations
4 evaluations · 16 results. Different protocols are not a single leaderboard.
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Methods and evaluation design
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Recorded evaluations
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Baseline coverage
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- Author-reported evaluations
- 1
- External evaluations
- 3
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Conventional reference
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Strengths, limitations and unresolved questions
Evidence
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Evidence table
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Sources and history
Release 2026-10-10-7b8f80935f90 · Record review: source checked
1 source records and release history
- Long-Read Whole-Transcriptome Sequencing and Selective Gene Panel Profiling Enable Sensitive Detection of Fusion Oncogenes in Pediatric B-Cell Acute Lymphoblastic Leukemia · Original source · Journal of Molecular Diagnostics 28(5):406, published 2026-02-10; PMC13197905 full-text XML
Technical metadata and extraction receipts
Stable ID: rna-fusion-20261009-protocol-lin2026-low-depth
- areas
- rna-transcriptomes
- contexts
- clinical_research
- protocol
- The dominant detected B-ALL fusion (most supporting reads) is compared with the sample's known fusion subtype. TP: concordant; TN: no fusion and none detected; FN: known fusion and none detected; FP: a B-ALL fusion detected that does not match or in a fusion-negative sample.
- version
- Table 6
- metric
- recall
- limitations
- FUSILLI was developed by the authors and is author_reported. Its filters (two supporting reads, gene distance and overlap) were set from analyses of candidate fusion-supporting reads (Methods 'FUSILLI'; Supplemental Figure S1), and the source does not say these were held out from the evaluated cohorts. FusionSeeker, JAFFAL and LongGF were run by the same authors, who did not develop them.; Per-sample classification by the dominant fusion among detected B-ALL list fusions (74 fusions); calls outside the list and secondary fusions are not scored, so this does not measure the review burden of a caller's full output.; A sample with a known fusion whose dominant call is a different fusion counts as a false positive, not a false negative, so sensitivity is not the fraction of known-fusion samples correctly typed.; Truth is the clinical genomic subtype from cytogenetics, FISH and short-read RNA-seq (CICERO, FusionCatcher and manual review).; Paediatric B-ALL only; PAX5::ZCCHC7 excluded from scoring; the authors note IGH::DUX4, KMT2A and ZNF384 rearrangements were not tested.; Caller versions are not printed; JAFFAL ran from the 'latest' container image.; Scored per sequencing run: 119 runs of 68 samples, so biological and technical replicates are counted separately. Methods give 79 runs with a known fusion; Results give 81 samples with known genomic subtypes.; The abstract says FUSILLI outperformed the other callers with 'sensitivities ranging from 0.09 to 0.16'; Table 6 prints 0.23 for JAFFAL. Table values are recorded.
- source locator
- Table 6; Materials and Methods 'Fusion Performance Evaluations'
Related records
- uses data: Paediatric B-ALL nanopore PCR-cDNA whole-transcriptome sequencing (UNC, St Jude, ECOG-ACRIN)
- assessment: FUSILLI on paediatric B-ALL nanopore WTS, low-depth (Lin et al. 2026)
- assessment: FusionSeeker on paediatric B-ALL nanopore WTS, low-depth (Lin et al. 2026)
- assessment: JAFFAL on paediatric B-ALL nanopore WTS, low-depth (Lin et al. 2026)
- assessment: LongGF on paediatric B-ALL nanopore WTS, low-depth (Lin et al. 2026)
- assessed by: Select a tumour RNA fusion-detection workflow