Result

Yes event-detected

segarracasas2025-fraser01-event-01 event-detected

Tested configuration: FRASER v1.8.1, |dPSI| > 0.1 (Segarra-Casas et al.)
Protocol: Detection of 16 known pathogenic splicing events in clinical muscle RNA-seq (Segarra-Casas et al. Table 2)
Dataset: Segarra-Casas et al. skeletal-muscle RNA-seq cohort, 16 pathogenic splicing events
Procedure: rna-splicing-20261009-protocol-segarracasas2025-known-event-detection
Evaluation: FRASER |ΔPSI| > 0.1 on 16 known pathogenic muscle splicing events
Coverage: Not reported scored / Not reported eligible
Uncertainty: Not applicable
Evidence: Independent external evaluation · source checkedTranslating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Table 2 row 1 (case DMD1), column 'FRASER |ΔPSI| > 0.1'

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: Not reported
Scoring implementation: Not reported

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

Claims, original sources and review scope · Release 2026-10-09-ba02f2f4a36e
Property and statement	Original source and location	Review and provenance
Reported result Yes Individual claims	Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Original source ↗ Table 2 row 1 (case DMD1), column 'FRASER \|ΔPSI\| > 0.1' Version: Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML Retrieved: 2026-10-09T20:33:50Z	source checked ["source-hash-verification","deterministic-table-parse","independent-cell-check"] · 2026-10-09 independent paper Audit details 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. Field: `attributes.printed_value` Source artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact Extraction artifact SHA-256: `6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d` Extraction artifact

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Sources and history

Release 2026-10-09-ba02f2f4a36e · Record review: source checked

1 source records and release history

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases · Original source · Annals of Clinical and Translational Neurology 12(7):1465, published online 2025-05-25; PMC12257123 full-text XML

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Technical metadata and extraction receipts

Stable ID: rna-splicing-20261009-result-segarracasas2025-fraser01-event-01

metric: event-detected
metric direction: unknown
unit: unitless
printed value: Yes
numeric value: Not reported
source locator: Table 2 row 1 (case DMD1), column 'FRASER |ΔPSI| > 0.1'
missing metadata: uncertainty: reason: inapplicable
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: 6e61a917c80d08357fe7316ad84f5cb84ac457fcce4cb1d3b5bf866046e2095d; retrieval url: https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12257123/fullTextXML; method note: Re-downloaded the artifact and matched its SHA-256. Read Segarra-Casas 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. Checked the bold markup of the cell against printed_source_cell.; 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: case DMD1, DMD(NM_004006.3):c.10554‐2996T>G, Out‐of‐frame pseudoexon
unit detail: Printed Yes or No per known event
printed source cell: bold

Related records

evaluation: FRASER |ΔPSI| > 0.1 on 16 known pathogenic muscle splicing events

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