SpliceAI2 share of excess rare-disease burden
Excess burden share of Excess panel-matched rare variants in Genomics England rare-disease probands at panel-match odds ratio 2 (SpliceAI2 paper)
Among excess panel-matched variants, protein-truncating variants accounted for 50% and SpliceAI2-identified cryptic splice variants a further 15%; half of those cryptic splice variants lie more than 50 bp into introns. At panel-match odds ratio 2 the next best model recovered 114 excess variants; the text does not name it.
Among excess panel-matched variants, protein-truncating variants accounted for 50% and SpliceAI2-identified cryptic splice variants a further 15%; half of those cryptic splice variants lie more than 50 bp into introns. At panel-match odds ratio 2 the next best model recovered 114 excess variants; the text does not name it.
Evidence
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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.
6 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Claimed field excess_burden_share Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraphs 2 and 3; Fig. 4e Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: 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. |
| Source location Main 'Contribution to rare genetic disease' paragraphs 2 and 3; Fig. 4e Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraphs 2 and 3; Fig. 4e Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: 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. |
| Claimed value Among excess panel-matched variants, protein-truncating variants accounted for 50% and SpliceAI2-identified cryptic splice variants a further 15%; half of those cryptic splice variants lie more than 50 bp into introns. At panel-match odds ratio 2 the next best model recovered 114 excess variants; the text does not name it. Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraphs 2 and 3; Fig. 4e Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: 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. |
| Description Among excess panel-matched variants, protein-truncating variants accounted for 50% and SpliceAI2-identified cryptic splice variants a further 15%; half of those cryptic splice variants lie more than 50 bp into introns. At panel-match odds ratio 2 the next best model recovered 114 excess variants; the text does not name it. Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraphs 2 and 3; Fig. 4e Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: 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. |
| Relationship: subject rna-splicing-20261013-spliceai2-protocol-gel-panel-enrichment Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraphs 2 and 3; Fig. 4e Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: 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. |
| Name SpliceAI2 share of excess rare-disease burden Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraphs 2 and 3; Fig. 4e Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded Audit detailsField: 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. |
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-claim-rare-disease-burden
- field
- excess_burden_share
- value
- Among excess panel-matched variants, protein-truncating variants accounted for 50% and SpliceAI2-identified cryptic splice variants a further 15%; half of those cryptic splice variants lie more than 50 bp into introns. At panel-match odds ratio 2 the next best model recovered 114 excess variants; the text does not name it.
- source locator
- Main 'Contribution to rare genetic disease' paragraphs 2 and 3; Fig. 4e
- 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: Statement transcribed from the pinned text layer (pdftotext -layout) and asserted by extract/build_batch.py.