True positives (of the 23 prioritised variants, those showing RNA-seq evidence of the predicted splicing change) of SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026) on Genomics England rare-disease participants with WGS and blood RNA-seq (Jaganathan et al. 2026)
17 True positives (of the 23 prioritised variants, those showing RNA-seq evidence of the predicted splicing change)
Methods
- Tested configuration
- SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026)
- Protocol
- RNA-seq confirmation of SpliceAI2-prioritised rare variants in panel genes, Genomics England rare-disease participants (SpliceAI2 paper)
- Dataset
- Genomics England rare-disease participants with WGS and blood RNA-seq (Jaganathan et al. 2026)
- Procedure
- RNA-seq confirmation of SpliceAI2-prioritised rare variants in panel genes, Genomics England rare-disease participants (SpliceAI2 paper)
- Evaluation
- SpliceAI2 prioritised variants confirmed in Genomics England RNA-seq
- Coverage
- Not reported scored / Not reported eligible
- Uncertainty
- Not reported by the source
- Evidence
- Author-reported evaluation · source checkedA unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Main 'Contribution to rare genetic disease' paragraph 4: '... of which 17 showed evidence of the predicted splicing change'
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
- None
- Adaptation
- Not reported
- Scoring implementation
- Count of prioritised variants and of those with RNA-seq evidence of the predicted change
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 17 Individual claims | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4: '... of which 17 showed evidence of the predicted splicing change' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | source checked ["pdf-text-parse","independent-cell-check"] · 2026-10-13 author reported Audit detailsChecked against the pinned source by the independent reviewer; verdict and correction list in docs/reviews/use-cases/spliceai2-2026-10-13.md and this batch's review.json. Developer-reported value, not reproduced. Extraction method: Transcribed from the pinned text layer (pdftotext -layout); the sentence is asserted verbatim (whitespace-normalised) by extract/build_batch.py. Field: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (XMP ModifyDate, MetadataDate, DocumentID, InstanceID, Info ModDate and the second trailer ID), so later retrievals differ. A reviewer retrieval on 2026-10-13 of the same length (2,679,664 bytes) had SHA-256 407f5884427dda0226e0ce1f022e4479d3ff2b243da18bcc691eb345b0e04a6a and ModDate D:20261013063115-07'00'; its bytes differ only in those fields and its pdftotext text layer is identical to the pinned copy. Extraction artifact SHA-256: |
Sources and history
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
1 source record and release history
- A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) · Original source · bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages)
Technical metadata and extraction receipts
Stable ID: rna-splicing-20261013-spliceai2-result-gel-prioritised-confirmation-spliceai2-ensemble-confirmed-count
- metric
- true-positive-count
- metric direction
- higher
- unit
- count
- printed value
- 17
- numeric value
- 17
- source locator
- Main 'Contribution to rare genetic disease' paragraph 4: '... of which 17 showed evidence of the predicted splicing change'
- review
- method: pdf-text-parse; independent-cell-check; reviewer: claude; reviewer note: Claude (Opus 5.5) research agent, independent reviewer; did not extract this batch; no human review claimed; date: 2026-10-13; artifact sha256: f8f3db2c3943d4827b670bc2e962e0cec8fbe96e0b1acf9d4a9b9f0c7a78c06b; retrieval url: https://www.biorxiv.org/content/10.64898/2026.10.08.757673v1.full.pdf; method note: Sentence located in the reviewer's own pdftotext output of the pinned PDF; printed value and its context re-read.; note: Checked against the pinned source by the independent reviewer; verdict and correction list in docs/reviews/use-cases/spliceai2-2026-10-13.md and this batch's review.json. Developer-reported value, not reproduced. Extraction method: Transcribed from the pinned text layer (pdftotext -layout); the sentence is asserted verbatim (whitespace-normalised) by extract/build_batch.py.
- missing metadata
- uncertainty: reason: unreported
- metric qualifier
- of the 23 prioritised variants, those showing RNA-seq evidence of the predicted splicing change