Developer-reported comparison transcribed from the pinned source; not reproduced.
1 evaluation · 2 results. Different protocols are not a single leaderboard.
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)
Sorted by True positives (of the 23 prioritised variants, those showing RNA-seq evidence of the predicted splicing change) (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.
| Tested configuration | True positives (of the 23 prioritised variants, those showing RNA-seq evidence of the predicted splicing change) | Count (rare variants prioritised at SpliceAI2 > 0.25 in panel genes) |
|---|---|---|
| SpliceAI2 two-model multispecies ensemble (Jaganathan et al. 2026)Evaluation | 17 | 23 |
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18 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Comparison: adaptation Not reported Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | missing or unspecified No individual claim review recorded author reported 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. |
| Comparison: aggregation Count Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded author reported 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. |
| Comparison: budget Not reported Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | missing or unspecified No individual claim review recorded author reported 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. |
| Comparison: dataset version Genomics England NGRL rare-disease WGS and RNA-seq (project 754) Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded author reported 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. |
| Comparison: inputs SpliceAI2 summary score > 0.25 for rare variants in phenotype-matched panel genes Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded author reported 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. |
| Comparison: metric implementation Count of prioritised variants and of those with RNA-seq evidence of the predicted change Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded author reported 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. |
| Comparison: population Participants with RNA-seq, monoallelic disorders and up to 500 panel genes Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded author reported 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. |
| Comparison: protocol id rna-splicing-20261013-spliceai2-protocol-gel-prioritised-confirmation Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded author reported 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. |
| Comparison: split None Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded author reported 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. |
| Origin author_reported Context-only references | A unified framework for quantitative splicing and transcript prediction (Jaganathan et al., bioRxiv 2026) Main 'Contribution to rare genetic disease' paragraph 4; Extended Data Fig. 5 Version: bioRxiv preprint version 1, posted 2026-10-11; full-text PDF (57 pages) | not individually reviewed No individual claim review recorded author reported 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. |
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
Stable ID: rna-splicing-20261013-spliceai2-eval-gel-prioritised-confirmation-spliceai2-ensemble