AUPRC (all variants) of SpliceAI 1.3.1, position-resolved delta at the effect position, masking off (Jaganathan et al. 2026) on Genomics England rare-disease participants with WGS and blood RNA-seq (Jaganathan et al. 2026)
0.48 AUPRC (all variants)
Methods
- Tested configuration
- SpliceAI 1.3.1, position-resolved delta at the effect position, masking off (Jaganathan et al. 2026)
- Protocol
- Cryptic splice site activation by rare GT/AG-creating variants in Genomics England blood RNA-seq (SpliceAI2 paper, auPRC)
- Dataset
- Genomics England rare-disease participants with WGS and blood RNA-seq (Jaganathan et al. 2026)
- Procedure
- Cryptic splice site activation by rare GT/AG-creating variants in Genomics England blood RNA-seq (SpliceAI2 paper, auPRC)
- Evaluation
- SpliceAI on Genomics England GT/AG cryptic splice activation (auPRC, SpliceAI2 paper)
- 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) · Fig. 4g (page 17), bar label for 'SpliceAI'
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 (pretrained scoring)
- Adaptation
- Not reported
- Scoring implementation
- auPRC
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 0.48 Individual claims | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Fig. 4g (page 17), bar label for 'SpliceAI' Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | source checked ["pdf-text-parse","independent-cell-check","rendered-source-visual-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: Printed bar label in the pinned PDF; label positions read with `pdftotext -bbox` and asserted to run left to right in legend order (SpliceAI, Pangolin, AlphaGenome, SpliceAI2), with bar colours checked on a 130 dpi render (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-gtag-detection-spliceai-position-resolved-auprc
- metric
- auprc
- metric direction
- higher
- unit
- unitless
- printed value
- 0.48
- numeric value
- 0.48
- source locator
- Fig. 4g (page 17), bar label for 'SpliceAI'
- review
- method: pdf-text-parse; independent-cell-check; rendered-source-visual-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: Bar label read on the reviewer's render of the page at 120 dpi and in the text layer; bar order and colours checked against the panel legend (SpliceAI, Pangolin, AlphaGenome, SpliceAI2).; 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: Printed bar label in the pinned PDF; label positions read with `pdftotext -bbox` and asserted to run left to right in legend order (SpliceAI, Pangolin, AlphaGenome, SpliceAI2), with bar colours checked on a 130 dpi render (extract/build_batch.py).
- missing metadata
- uncertainty: reason: unreported
- metric qualifier
- all variants