rewirebio.iobenchmarks
Evidence claim

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.

5 reviewed evaluations

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

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statementOriginal source and locationReview and provenance
Citation locations
1 values
  • source id
    splicing-follow-up-20261009-source-znabu2026
    locator
    Section 4 Results table; Sections 2 and 3
Context-only references
A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.citation_locators

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

Comparison group
znabu2026-mfass
Context-only references
A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.comparison_group

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

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

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.comparison_title

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

Constraints
2 values
  • 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.
Context-only references
A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.constraints

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

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

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.endpoint

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

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

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.field

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

Headline metric
average-precision
Context-only references
A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.headline_metric

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

Limitations
6 values
  • 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.
Context-only references
A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.limitations

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

Pinned records
23 values
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Context-only references
A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.pins

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

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

Original source ↗

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
Retrieved: 2026-10-09T20:52:21Z

not individually reviewed

No individual claim review recorded

Audit details

Field: attributes.rationale

Source artifact SHA-256: 52a2d1ccfd99ef62f847b323030acdb7d881ae75b6c9dda8805884a2e7727552

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.

Inspected artifact

How to read the evidence

Sources and history

Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

1 source record and release historyDownload this release (gzip)
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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