Alavi 2026 AlphaGenome splicing discrepancy: corrected values added from the revised preprint
Discrepancy review of AlphaGenome (Either Module) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)
confirmed-error
Version 2 of Alavi 2026 reruns AlphaGenome with the coordinate fix. Its 56 AlphaGenome results are added; 28 of them rerun a version 1 scorer and replace its disputed results.
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.
111 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Action corrected-records Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. 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. |
| Action corrected-records Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026, version 2) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: bioRxiv preprint version 2, posted 2026-10-31; full-text PDF (12 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, downloaded in a browser on 2026-11-01 (bioRxiv refused the scripted request). bioRxiv stamps the PDF when serving it (ModDate D:20261101144527 in this copy), so later retrievals differ. |
| Action corrected-records Context-only references | Alavi 2026 AlphaGenome scoring scripts at commit 2a3875de (marcel-2c8/splicing-model-eval-2026) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: marcel-2c8/splicing-model-eval-2026 commit 2a3875de6635d3c9b51c71c8018d23df0df98d37 (2026-10-31) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of 2c8_alphagenome_merged_splicing_scorer.py at the commit. The other two scripts at the same commit: 2c8_alphagenome_splicescorer.py 0c425043d31e02b1ca6fe0ce1120051352a0b2eae2571e70ce4f05f14114c151, 2c8_alphagenome_junctionscorer.py 9f260b27b06670505a903e8695ce020ac7432acd640a7041823d47c762bfbcec. |
| Date 2026-11-01 Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. 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. |
| Date 2026-11-01 Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026, version 2) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: bioRxiv preprint version 2, posted 2026-10-31; full-text PDF (12 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, downloaded in a browser on 2026-11-01 (bioRxiv refused the scripted request). bioRxiv stamps the PDF when serving it (ModDate D:20261101144527 in this copy), so later retrievals differ. |
| Date 2026-11-01 Context-only references | Alavi 2026 AlphaGenome scoring scripts at commit 2a3875de (marcel-2c8/splicing-model-eval-2026) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: marcel-2c8/splicing-model-eval-2026 commit 2a3875de6635d3c9b51c71c8018d23df0df98d37 (2026-10-31) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of 2c8_alphagenome_merged_splicing_scorer.py at the commit. The other two scripts at the same commit: 2c8_alphagenome_splicescorer.py 0c425043d31e02b1ca6fe0ce1120051352a0b2eae2571e70ce4f05f14114c151, 2c8_alphagenome_junctionscorer.py 9f260b27b06670505a903e8695ce020ac7432acd640a7041823d47c762bfbcec. |
| Discrepancy id discrepancy-52a714eb6bb63442 Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. 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. |
| Discrepancy id discrepancy-52a714eb6bb63442 Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026, version 2) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: bioRxiv preprint version 2, posted 2026-10-31; full-text PDF (12 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, downloaded in a browser on 2026-11-01 (bioRxiv refused the scripted request). bioRxiv stamps the PDF when serving it (ModDate D:20261101144527 in this copy), so later retrievals differ. |
| Discrepancy id discrepancy-52a714eb6bb63442 Context-only references | Alavi 2026 AlphaGenome scoring scripts at commit 2a3875de (marcel-2c8/splicing-model-eval-2026) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: marcel-2c8/splicing-model-eval-2026 commit 2a3875de6635d3c9b51c71c8018d23df0df98d37 (2026-10-31) | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of 2c8_alphagenome_merged_splicing_scorer.py at the commit. The other two scripts at the same commit: 2c8_alphagenome_splicescorer.py 0c425043d31e02b1ca6fe0ce1120051352a0b2eae2571e70ce4f05f14114c151, 2c8_alphagenome_junctionscorer.py 9f260b27b06670505a903e8695ce020ac7432acd640a7041823d47c762bfbcec. |
| Claimed field discrepancy_review Context-only references | Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API. Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages) | not individually reviewed No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. 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. |
Sources and history
Release 2026-11-02-a7f03c9e55a5 · Record review: source checked
3 source records and release history
- Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026, version 2) · Original source · bioRxiv preprint version 2, posted 2026-10-31; full-text PDF (12 pages)
- Alavi 2026 AlphaGenome scoring scripts at commit 2a3875de (marcel-2c8/splicing-model-eval-2026) · Original source · marcel-2c8/splicing-model-eval-2026 commit 2a3875de6635d3c9b51c71c8018d23df0df98d37 (2026-10-31)
- Probing Genomic Foundation Models with Splice-Variant Perturbations (Alavi, bioRxiv 2026) · Original source · bioRxiv preprint version 1, posted 2026-10-09; full-text PDF (11 pages)
Technical metadata and extraction receipts
Stable ID: discrepancy-review-20261101-alavi-alphagenome-splicing-rerun
- areas
- dna-genomes
- contexts
- clinical_research
- field
- discrepancy_review
- discrepancy id
- discrepancy-52a714eb6bb63442
- previous ids
- discrepancy-ead251c24ba272c1
- revision
- 3
- value
- confirmed-error
- action
- corrected-records
- date
- 2026-11-01
- rationale
- Version 2 of the preprint (posted 2026-10-31) prints AlphaGenome rows rerun with the 1-based position. It replaces version 1's three AlphaGenome rows with four: the composite score of AlphaGenome's splicing notebook, splice-site usage, splice-sites and splice-junctions. The splice-sites and splice-junctions rows rerun version 1's splice scorer and junction scorer scripts (the junction score now uses a natural-log fold change and both thresholds were re-tuned), so their 28 results replace the disputed version 1 results, which stay disputed and out of the release. The composite and splice-site usage rows are new configurations. Version 1's either-module row has no successor and stays disputed. The other models' cells are unchanged from version 1.
- investigation url
- https://github.com/rewire-bio/rewire-benchmark-data/issues/213
- report url
- https://github.com/marcel-2c8/splicing-model-eval-2026/issues/2
- reported on
- 2026-10-19
- upstream response
- The author committed the coordinate fix to both scripts on 2026-10-23 (da0cf43e, 4a5c9163), added a merged splicing scorer on 2026-10-30 (102a107f), posted the rerun as bioRxiv version 2 on 2026-10-31 and closed issue #2 the same day. The repository was renamed to splicing-model-eval-2026.
- resolved by
- rna-splicing-20261101-alavi2026-v2-source-article; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-composite-accuracy; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-composite-ppv; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-composite-sensitivity; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-composite-specificity; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-composite-type-i-error; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-composite-type-ii-error; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-junctions-accuracy; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-junctions-ppv; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-junctions-sensitivity; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-junctions-specificity; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-junctions-type-i-error; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-junctions-type-ii-error; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-site-usage-accuracy; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-site-usage-ppv; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-site-usage-sensitivity; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-site-usage-specificity; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-site-usage-type-i-error; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-site-usage-type-ii-error; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-sites-accuracy; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-sites-ppv; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-sites-sensitivity; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-sites-specificity; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-sites-type-i-error; rna-splicing-20261101-alavi2026-v2-result-multigene-alphagenome-splice-sites-type-ii-error; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-composite-accuracy; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-composite-ppv; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-composite-sensitivity; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-composite-specificity; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-composite-type-i-error; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-composite-type-ii-error; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-junctions-accuracy; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-junctions-ppv; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-junctions-sensitivity; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-junctions-specificity; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-junctions-type-i-error; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-junctions-type-ii-error; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-site-usage-accuracy; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-site-usage-ppv; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-site-usage-sensitivity; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-site-usage-specificity; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-site-usage-type-i-error; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-site-usage-type-ii-error; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-sites-accuracy; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-sites-ppv; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-sites-sensitivity; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-sites-specificity; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-sites-type-i-error; rna-splicing-20261101-alavi2026-v2-result-opa1-evaluation-alphagenome-splice-sites-type-ii-error; rna-splicing-20261101-alavi2026-v2-result-opa1-extended-positive-calls-alphagenome-composite-positive-mutations; rna-splicing-20261101-alavi2026-v2-result-opa1-extended-positive-calls-alphagenome-composite-positive-vus; rna-splicing-20261101-alavi2026-v2-result-opa1-extended-positive-calls-alphagenome-splice-junctions-positive-mutations; rna-splicing-20261101-alavi2026-v2-result-opa1-extended-positive-calls-alphagenome-splice-junctions-positive-vus; rna-splicing-20261101-alavi2026-v2-result-opa1-extended-positive-calls-alphagenome-splice-site-usage-positive-mutations; rna-splicing-20261101-alavi2026-v2-result-opa1-extended-positive-calls-alphagenome-splice-site-usage-positive-vus; rna-splicing-20261101-alavi2026-v2-result-opa1-extended-positive-calls-alphagenome-splice-sites-positive-mutations; rna-splicing-20261101-alavi2026-v2-result-opa1-extended-positive-calls-alphagenome-splice-sites-positive-vus
- source locator
- rna-splicing-20261101-alavi2026-v2-source-article: Tables III and IV, AlphaGenome rows; Methods D. rna-splicing-20261101-alavi2026-v2-source-scoring-scripts: commit 2a3875de6635d3c9b51c71c8018d23df0df98d37, models/2_alphagenome. Upstream issue #2 state and closing date from the GitHub API.
- review
- method: automated-source-review; ai-assisted-source-review; reviewer: claude; reviewer note: Claude agent for issue #213; no human review claimed. Extractor and reviewer were the same agent in the same session.; date: 2026-11-01; method note: Read version 2 Tables III and IV and Methods D, the scripts at the pinned commit, and the issue and commit history through the GitHub API.; note: Checked that resolved_by names the version 2 source and its 56 AlphaGenome results, and that each of the 28 rows of supersession.tsv pairs a version 2 result with the disputed version 1 result of the same protocol and column. Records a state change; nothing was reproduced. Verdict in docs/reviews/2026-11-01-alavi-v2-rerun.md.
Related records
- subject: AlphaGenome (Either Module) on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)
- subject: AlphaGenome Junction Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)
- subject: AlphaGenome Splice Scorer on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes)
- subject: AlphaGenome (Either Module) on OPA1 LOVD evaluation sets (49 splicing, 79 benign)
- subject: AlphaGenome Junction Scorer on OPA1 LOVD evaluation sets (49 splicing, 79 benign)
- subject: AlphaGenome Splice Scorer on OPA1 LOVD evaluation sets (49 splicing, 79 benign)
- subject: AlphaGenome (Either Module) on OPA1 extended LOVD corpus (306 pathogenic substitutions, 69 VUS)
- subject: AlphaGenome Junction Scorer on OPA1 extended LOVD corpus (306 pathogenic substitutions, 69 VUS)
- subject: AlphaGenome Splice Scorer on OPA1 extended LOVD corpus (306 pathogenic substitutions, 69 VUS)
- subject: AlphaGenome Composite on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Junctions on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Site Usage on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Sites on Multi-gene spliceogenic test set (76 spliceogenic, 107 benign, 65 genes) (Alavi 2026 v2)
- subject: AlphaGenome Composite on OPA1 LOVD evaluation sets (49 splicing, 79 benign) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Junctions on OPA1 LOVD evaluation sets (49 splicing, 79 benign) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Site Usage on OPA1 LOVD evaluation sets (49 splicing, 79 benign) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Sites on OPA1 LOVD evaluation sets (49 splicing, 79 benign) (Alavi 2026 v2)
- subject: AlphaGenome Composite on OPA1 extended LOVD corpus (306 pathogenic substitutions, 69 VUS) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Junctions on OPA1 extended LOVD corpus (306 pathogenic substitutions, 69 VUS) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Site Usage on OPA1 extended LOVD corpus (306 pathogenic substitutions, 69 VUS) (Alavi 2026 v2)
- subject: AlphaGenome Splice-Sites on OPA1 extended LOVD corpus (306 pathogenic substitutions, 69 VUS) (Alavi 2026 v2)