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1 evaluation · 2 results. Different protocols are not a single leaderboard.
Protocol: Share of further OPA1 pathogenic substitutions and VUS called splice-altering (Alavi Table III, extended corpus) · Dataset: OPA1 extended LOVD corpus (306 pathogenic substitutions, 69 VUS)
In source order. Decimals are rounded for display; each value links to the printed value and its source.
| Tested configuration | Proportion (share of 306 further OPA1 pathogenic substitutions called splice-altering) | Proportion (share of 69 OPA1 VUS substitutions called splice-altering) |
|---|---|---|
| AlphaGenome Splice Scorer (Alavi 2026)Evaluation | 58 (19.0%) | 5 (7.2%) |
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18 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Comparison: adaptation zero-shot scores with thresholds grid-searched on the OPA1 evaluation sets Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Comparison: aggregation Whole set Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Comparison: budget Not reported Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | missing or unspecified No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Comparison: dataset version As assembled by Alavi 2026 Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Comparison: inputs Single-nucleotide variant with genomic sequence context (GRCh38) Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Comparison: metric implementation Equations 1 to 5 (type I error, type II error, accuracy, specificity, sensitivity); PPV Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Comparison: population OPA1 LOVD substitutions outside the evaluation sets: 306 pathogenic or likely pathogenic mutations and 69 variants of uncertain significance, without splicing labels Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Comparison: protocol id rna-splicing-20261011-alavi2026-protocol-opa1-extended-positive-calls Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Comparison: split No split Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
| Origin independent_paper Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) Table III row 'ALPHAGENOME SPLICE SCORER' Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF. bioRxiv stamps the PDF when serving it (ModDate and the second document ID), so later retrievals differ. A reviewer retrieval on 2026-10-12 of the same length (1,823,372 bytes) had SHA-256 e22491e217c7c158528668b38bcb8b9855b89617b807c60b740795a204c84b0a and ModDate D:20261011221204-07'00'. All 168 Table III and IV cells in that copy match the stored results. |
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
Stable ID: rna-splicing-20261011-alavi2026-eval-opa1-extended-positive-calls-alphagenome-splice-scorer