1 known-gene-rank
segers2026-saser-junc-muc1350-04 known-gene-rank
- Tested configuration
- saseR-junctions (Segers et al.)
- Protocol
- Rank of known disease genes in 12 Kremer fibroblast RNA samples, aberrant splicing (Segers et al. Table 2)
- Dataset
- Kremer rare mitochondrial-disorder skin-fibroblast RNA cohort
- Procedure
- rna-splicing-20261009-protocol-segers2026-kremer-splicing-rank
- Evaluation
- Aberrant splicing: saseR junctions on 12 Kremer patients with known disease genes
- Coverage
- Not reported scored / Not reported eligible
- Uncertainty
- Not reported by the source
- Evidence
- Author-reported evaluation · source checkedsaseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Table 2 row 4 ('MUC1350: CLPP'), column 'Aberrant splicing: saseR junctions'
A source-checked result verifies the numerical transcription, not every model or protocol detail. Evaluation metadata: source checked. Source checked does not mean independently reproduced.
Reproduction
- Split
- No split
- Adaptation
- Latent factors fitted on the same 119 samples
- Scoring implementation
- Rank of the method's score for the disease gene within the patient sample
No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.
Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.
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 |
|---|---|---|
| Reported result 1 Individual claims | saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval Table 2 row 4 ('MUC1350: CLPP'), column 'Aberrant splicing: saseR junctions' Version: Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML | source checked ["source-hash-verification","deterministic-table-parse","independent-cell-check"] · 2026-10-09 author reported Audit detailsDeterministic parse of the pinned article XML table (extract/extract_rna_splicing.py) with caption, column headers and case labels asserted; printed text kept exactly, including Unicode minus and footnote text. Pending independent review. Independent review 2026-10-09: value and identity match the source. Field: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record Extraction artifact SHA-256: |
Sources and history
Release 2026-10-09-ba02f2f4a36e · Record review: source checked
1 source records and release history
- saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval · Original source · Genome Biology 27:103, published online 2026-02-18; PMC13019952 full-text XML
Technical metadata and extraction receipts
Stable ID: rna-splicing-20261009-result-segers2026-saser-junc-muc1350-04
- metric
- known-gene-rank
- metric direction
- lower
- unit
- unitless
- printed value
- 1
- numeric value
- 1
- source locator
- Table 2 row 4 ('MUC1350: CLPP'), column 'Aberrant splicing: saseR junctions'
- missing metadata
- uncertainty: reason: unreported
- review
- method: source-hash-verification; deterministic-table-parse; independent-cell-check; reviewer: claude; reviewer note: Separate Claude review agent, independent of the extractor; no human review claimed; date: 2026-10-09; artifact sha256: af11b79beec80f945a14f13ce487193ad733d740cace922eba0bd6d63b9de560; retrieval url: https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13019952/fullTextXML; method note: Re-downloaded the artifact and matched its SHA-256. Read Segers Table 2 (article XML) with a separate reader written for this review (the extractor's scripts were not run). Checked printed and numeric value, locator, metric, unit and direction, and the evaluation's configuration, protocol and dataset.; note: Deterministic parse of the pinned article XML table (extract/extract_rna_splicing.py) with caption, column headers and case labels asserted; printed text kept exactly, including Unicode minus and footnote text. Pending independent review. Independent review 2026-10-09: value and identity match the source.
- metric qualifier
- patient sample and gene MUC1350: CLPP
- unit detail
- Rank among genes in the patient's sample; 1 is the top-ranked gene