Relevance of MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026) to "Prioritise variants for splicing experiments"
- Use case
- Prioritise variants for splicing experiments
- Assessed by
- MFASS splice-disrupting variant detection, all 27,733 labelled SNVs (Znabu et al. 2026)
- Relevance
- Proxy evidence
- Endpoint
- AUROC and average precision (with bootstrap 95% intervals) for Pangolin, SpliceAI, SpliceTransformer, MMSplice and SPANR on all 27,733 labelled MFASS SNVs
Experimentally measured splicing of human SNVs, with several predictors scored on the same variants, informs which configurations to use when choosing SNVs for a follow-up splicing experiment. As for the existing MFASS mappings, transfer to a different assay, exon or follow-up capacity is not established. This is a separate MFASS population from the matched-annotation and v2 held-out protocols and must not be pooled with them.
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.
18 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
Citation locations1 values
| A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
| Comparison group znabu2026-mfass Context-only references | A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
| Comparison title MFASS full labelled cohort (Znabu et al. 2026 preprint) Context-only references | A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
Constraints2 values
| A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
| Endpoint AUROC and average precision (with bootstrap 95% intervals) for Pangolin, SpliceAI, SpliceTransformer, MMSplice and SPANR on all 27,733 labelled MFASS SNVs Context-only references | A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
| Claimed field links:assessed_by:splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort Context-only references | A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
| Headline metric average-precision Context-only references | A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
Limitations6 values
| A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
Pinned records23 values
| A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
| Rationale Experimentally measured splicing of human SNVs, with several predictors scored on the same variants, informs which configurations to use when choosing SNVs for a follow-up splicing experiment. As for the existing MFASS mappings, transfer to a different assay, exon or follow-up capacity is not established. This is a separate MFASS population from the matched-annotation and v2 held-out protocols and must not be pooled with them. Context-only references | A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3 Version: bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the PDF as served. The PDF ModDate is 2026-10-09 21:52:24 BST; a re-download at review on 2026-10-09 returned identical bytes. bioRxiv can re-stamp the PDF on later downloads, so if the hash stops matching, compare the text layer. |
Sources and history
Release 2026-11-02-a7f03c9e55a5 · Record review: source checked
1 source record and release history
- A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot · Original source · bioRxiv 2026.07.21.739871 v1, posted 2026-07-26; full-text PDF
Technical metadata and extraction receipts
Stable ID: use-case-mapping-splicing-follow-up-20261009-znabu2026-mfass
- field
- links:assessed_by:splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort
- value
- splicing-follow-up-20261009-protocol-znabu2026-mfass-full-cohort
- relevance
- proxy
- endpoint
- AUROC and average precision (with bootstrap 95% intervals) for Pangolin, SpliceAI, SpliceTransformer, MMSplice and SPANR on all 27,733 labelled MFASS SNVs
- rationale
- Experimentally measured splicing of human SNVs, with several predictors scored on the same variants, informs which configurations to use when choosing SNVs for a follow-up splicing experiment. As for the existing MFASS mappings, transfer to a different assay, exon or follow-up capacity is not established. This is a separate MFASS population from the matched-annotation and v2 held-out protocols and must not be pooled with them.
- constraints
- Inspect every linked evaluation's source locator and preserved conflicts before citing a result.; Do not combine this mapping's evaluations with any other protocol's results, including the matched and historical MFASS protocols; populations, labels and thresholds differ.
- limitations
- Preprint, not peer reviewed; independent authors.; Whole labelled cohort, not a held-out split; SPANR scored 27,663 variants.; The 27,733 count matches rewire-mfass-v2-dataset; variant-level identity was not checked.; Reporter exon inclusion, not patient RNA or pathogenicity.; SpliceAI was given a score of 0 where it returns none (outside annotated genes); the authors report the same ranking on the 12,855 variants SpliceAI scores above zero.; MMSplice was scored on a reconstructed cassette context, which the authors say likely understates it.
- citation locators
- source id: splicing-follow-up-20261009-source-znabu2026; locator: Section 4 Results table; Sections 2 and 3
- source locator
- splicing-follow-up-20261009-source-znabu2026: Section 4 Results table; Sections 2 and 3
- revision
- 1
- reason
- Recorded from the splicing follow-up use-case pass 2026-10-09 (data/omics/use-case-coverage-splicing-follow-up-20261009/).
- comparison group
- znabu2026-mfass
- comparison title
- MFASS full labelled cohort (Znabu et al. 2026 preprint)
- headline metric
- average-precision
- reviewed evaluations
- splicing-follow-up-20261009-eval-znabu2026-mmsplice; splicing-follow-up-20261009-eval-znabu2026-pangolin; splicing-follow-up-20261009-eval-znabu2026-spanr; splicing-follow-up-20261009-eval-znabu2026-spliceai; splicing-follow-up-20261009-eval-znabu2026-splicetransformer
- review
- method: automated-source-review; reviewer: claude; reviewer note: Separate Claude review agent, independent of the extractor; no human review claimed; reviewed at: 2026-10-09T22:30:00Z; note: Independent review of endpoint fit, relevance grade, limitations and grouping against the use case and the source text; every value of the listed evaluations was checked against the pinned table. No execution, reproduction, human scientific review or clinical validation.
- pins
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