Evidence claim

Relevance of MFASS: matched GENCODE 44 canonical annotation to "Prioritise variants for splicing experiments"

Use case: Prioritise variants for splicing experiments
Assessed by: MFASS: matched GENCODE 44 canonical annotation
Relevance: Proxy evidence
Endpoint: Ranking held-out MFASS SNVs by reporter-assay splice disruption under matched canonical annotation.

The recorded endpoint informs assay-oriented prioritisation under its declared conditions. Selecting variants for a different follow-up experiment requires transfer validation; the endpoint is not patient RNA or clinical pathogenicity.

4 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.

80 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statement	Original source and location	Review and provenance
Citation locations 5 values source id rewire-mfass-matched-v1-source-report locator /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity source id rewire-mfass-matched-v1-source-manifest-v1 locator /conditions; /distance; /resources_sha256; /code source id rewire-mfass-matched-v1-source-exclusion-verification locator /exclusion_counts; /conditions; /checks source id use-case-source-mfass-matched-intake-194a78b locator Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation source id evidence-expansion-mfass-readme-62a93814 locator Dataset; Limits Context-only references	MFASS benchmark: corrected v2 protocol and reproducibility instructions Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Primary full-text snapshot retrieved 2026-09-17; exact bytes pinned by SHA-256 Retrieved: 2026-09-17T08:06:30.007068+00:00	not individually reviewed No individual claim review recorded Audit details Field: `attributes.citation_locators` Source artifact SHA-256: `62a9381484fd2360767e78b114d9aa6cd8a4fc6487a981881a4c4999f0ab1b23` Hash scope: Exact retrieved primary paper artifact bytes. Inspected artifact
Citation locations 5 values source id rewire-mfass-matched-v1-source-report locator /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity source id rewire-mfass-matched-v1-source-manifest-v1 locator /conditions; /distance; /resources_sha256; /code source id rewire-mfass-matched-v1-source-exclusion-verification locator /exclusion_counts; /conditions; /checks source id use-case-source-mfass-matched-intake-194a78b locator Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation source id evidence-expansion-mfass-readme-62a93814 locator Dataset; Limits Context-only references	MFASS matched canonical annotation v1: exclusion-verification.json Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 4be7a98e2553fa2378c29625b13eb3e8ac2e58fb Retrieved: 2026-09-25T11:24:56Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.citation_locators` Source artifact SHA-256: `5d2099db4cf6f01432fd88c7db949da89ab9917940705fd0eaa1fb7c9354d46a` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Citation locations 5 values source id rewire-mfass-matched-v1-source-report locator /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity source id rewire-mfass-matched-v1-source-manifest-v1 locator /conditions; /distance; /resources_sha256; /code source id rewire-mfass-matched-v1-source-exclusion-verification locator /exclusion_counts; /conditions; /checks source id use-case-source-mfass-matched-intake-194a78b locator Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation source id evidence-expansion-mfass-readme-62a93814 locator Dataset; Limits Context-only references	MFASS matched canonical annotation v1: manifest-v1.json Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 093fd1ae198c80ce34408d84d6543bca4fc538f2 Retrieved: 2026-09-25T11:24:56Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.citation_locators` Source artifact SHA-256: `3fce70dd0bd96cb92d9d0e41287f31e62ddc4ecb8d188615093a873e952433e8` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Citation locations 5 values source id rewire-mfass-matched-v1-source-report locator /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity source id rewire-mfass-matched-v1-source-manifest-v1 locator /conditions; /distance; /resources_sha256; /code source id rewire-mfass-matched-v1-source-exclusion-verification locator /exclusion_counts; /conditions; /checks source id use-case-source-mfass-matched-intake-194a78b locator Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation source id evidence-expansion-mfass-readme-62a93814 locator Dataset; Limits Context-only references	MFASS matched canonical annotation v1: report.json Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 093fd1ae198c80ce34408d84d6543bca4fc538f2 Retrieved: 2026-09-25T11:24:56Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.citation_locators` Source artifact SHA-256: `259eb542313914b9114c21b62891f022c0ec0d9e3337196b8d7b2c6d5ae54ef3` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Citation locations 5 values source id rewire-mfass-matched-v1-source-report locator /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity source id rewire-mfass-matched-v1-source-manifest-v1 locator /conditions; /distance; /resources_sha256; /code source id rewire-mfass-matched-v1-source-exclusion-verification locator /exclusion_counts; /conditions; /checks source id use-case-source-mfass-matched-intake-194a78b locator Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation source id evidence-expansion-mfass-readme-62a93814 locator Dataset; Limits Context-only references	MFASS matched study intake: coverage and interpretation Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 194a78b37eed911d0872e9b047a2539a9fee5dd0 Retrieved: 2026-09-25T15:28:11Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.citation_locators` Source artifact SHA-256: `0af394e74888c01dbe2970d2e28b9bbacb4a83d355881feaaa3a704396a2074d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Constraints 3 values Identical scored population: 8,297 of 8,324 held-out variants, 314 scored positives and 460 groups in all four configurations. Shared GENCODE 44 canonical transcript selection and FASTA; 50-base distance; distinct SpliceAI and Pangolin masking settings. Keep historical annotation conditions and scoring populations in their existing separate comparison groups. Context-only references	MFASS benchmark: corrected v2 protocol and reproducibility instructions Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Primary full-text snapshot retrieved 2026-09-17; exact bytes pinned by SHA-256 Retrieved: 2026-09-17T08:06:30.007068+00:00	not individually reviewed No individual claim review recorded Audit details Field: `attributes.constraints` Source artifact SHA-256: `62a9381484fd2360767e78b114d9aa6cd8a4fc6487a981881a4c4999f0ab1b23` Hash scope: Exact retrieved primary paper artifact bytes. Inspected artifact
Constraints 3 values Identical scored population: 8,297 of 8,324 held-out variants, 314 scored positives and 460 groups in all four configurations. Shared GENCODE 44 canonical transcript selection and FASTA; 50-base distance; distinct SpliceAI and Pangolin masking settings. Keep historical annotation conditions and scoring populations in their existing separate comparison groups. Context-only references	MFASS matched canonical annotation v1: exclusion-verification.json Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 4be7a98e2553fa2378c29625b13eb3e8ac2e58fb Retrieved: 2026-09-25T11:24:56Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.constraints` Source artifact SHA-256: `5d2099db4cf6f01432fd88c7db949da89ab9917940705fd0eaa1fb7c9354d46a` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Constraints 3 values Identical scored population: 8,297 of 8,324 held-out variants, 314 scored positives and 460 groups in all four configurations. Shared GENCODE 44 canonical transcript selection and FASTA; 50-base distance; distinct SpliceAI and Pangolin masking settings. Keep historical annotation conditions and scoring populations in their existing separate comparison groups. Context-only references	MFASS matched canonical annotation v1: manifest-v1.json Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 093fd1ae198c80ce34408d84d6543bca4fc538f2 Retrieved: 2026-09-25T11:24:56Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.constraints` Source artifact SHA-256: `3fce70dd0bd96cb92d9d0e41287f31e62ddc4ecb8d188615093a873e952433e8` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Constraints 3 values Identical scored population: 8,297 of 8,324 held-out variants, 314 scored positives and 460 groups in all four configurations. Shared GENCODE 44 canonical transcript selection and FASTA; 50-base distance; distinct SpliceAI and Pangolin masking settings. Keep historical annotation conditions and scoring populations in their existing separate comparison groups. Context-only references	MFASS matched canonical annotation v1: report.json Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 093fd1ae198c80ce34408d84d6543bca4fc538f2 Retrieved: 2026-09-25T11:24:56Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.constraints` Source artifact SHA-256: `259eb542313914b9114c21b62891f022c0ec0d9e3337196b8d7b2c6d5ae54ef3` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Constraints 3 values Identical scored population: 8,297 of 8,324 held-out variants, 314 scored positives and 460 groups in all four configurations. Shared GENCODE 44 canonical transcript selection and FASTA; 50-base distance; distinct SpliceAI and Pangolin masking settings. Keep historical annotation conditions and scoring populations in their existing separate comparison groups. Context-only references	MFASS matched study intake: coverage and interpretation Original source ↗ rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 194a78b37eed911d0872e9b047a2539a9fee5dd0 Retrieved: 2026-09-25T15:28:11Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.constraints` Source artifact SHA-256: `0af394e74888c01dbe2970d2e28b9bbacb4a83d355881feaaa3a704396a2074d` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

How to read the evidence

Sources and history

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

5 source records and release history

MFASS matched canonical annotation v1: report.json · Original source · 093fd1ae198c80ce34408d84d6543bca4fc538f2
MFASS matched canonical annotation v1: manifest-v1.json · Original source · 093fd1ae198c80ce34408d84d6543bca4fc538f2
MFASS matched canonical annotation v1: exclusion-verification.json · Original source · 4be7a98e2553fa2378c29625b13eb3e8ac2e58fb
MFASS matched study intake: coverage and interpretation · Original source · 194a78b37eed911d0872e9b047a2539a9fee5dd0
MFASS benchmark: corrected v2 protocol and reproducibility instructions · Original source · Primary full-text snapshot retrieved 2026-09-17; exact bytes pinned by SHA-256

Download this release (gzip)

Technical metadata and extraction receipts

Stable ID: use-case-mapping-splicing-mfass-matched-v1

field: links:assessed_by:rewire-mfass-matched-v1-protocol
value: rewire-mfass-matched-v1-protocol
relevance: proxy
endpoint: Ranking held-out MFASS SNVs by reporter-assay splice disruption under matched canonical annotation.
rationale: The recorded endpoint informs assay-oriented prioritisation under its declared conditions. Selecting variants for a different follow-up experiment requires transfer validation; the endpoint is not patient RNA or clinical pathogenicity.
constraints: Identical scored population: 8,297 of 8,324 held-out variants, 314 scored positives and 460 groups in all four configurations.; Shared GENCODE 44 canonical transcript selection and FASTA; 50-base distance; distinct SpliceAI and Pangolin masking settings.; Keep historical annotation conditions and scoring populations in their existing separate comparison groups.
limitations: 23 assembly-orientation mismatches and four canonical-transcript-span exclusions remain unscored. The latter are protocol exclusions, not established faulty variants; full-population performance is unknown.; No top-100 precision difference is established and masked Pangolin is tie-sensitive. Paired contrast intervals are not individual-condition intervals.; Exploratory source review only; no independent human review, replication or clinical validation. Assembly-issue author confirmation is not established.
revision: 1
reason: Initial bounded applicability review of the matched MFASS study.
task id: catalog-task-mfass-splice
citation locators: source id: rewire-mfass-matched-v1-source-report; locator: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; source id: rewire-mfass-matched-v1-source-manifest-v1; locator: /conditions; /distance; /resources_sha256; /code; source id: rewire-mfass-matched-v1-source-exclusion-verification; locator: /exclusion_counts; /conditions; /checks; source id: use-case-source-mfass-matched-intake-194a78b; locator: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; source id: evidence-expansion-mfass-readme-62a93814; locator: Dataset; Limits
source locator: rewire-mfass-matched-v1-source-report: /conditions/{S0,S1,P0,P1}/coverage; /conditions/{S0,S1,P0,P1}/metrics; /conditions/{S0,S1,P0,P1}/ties; /contrasts/{S1-S0,P1-P0,P0-S0}/paired/precision_at_capacity; rewire-mfass-matched-v1-source-manifest-v1: /conditions; /distance; /resources_sha256; /code; rewire-mfass-matched-v1-source-exclusion-verification: /exclusion_counts; /conditions; /checks; use-case-source-mfass-matched-intake-194a78b: Opening coverage, exclusion, annotation and interpretation paragraphs; Review and validation; evidence-expansion-mfass-readme-62a93814: Dataset; Limits
review: method: automated-source-review; reviewer: codex; reviewer note: Codex research curation; reviewed at: 2026-09-25T15:28:11Z; note: Reviewed exact configuration and population scope against pinned source bytes. Applicability remains proxy evidence; no human domain review or clinical validation.
reviewed evaluations: rewire-mfass-matched-v1-evaluation-p0; rewire-mfass-matched-v1-evaluation-p1; rewire-mfass-matched-v1-evaluation-s0; rewire-mfass-matched-v1-evaluation-s1
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