Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Primary source retrieved and hashed for the patient-RNA splicing use-case pass.
Evidence
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Evidence table
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18 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.artifact_sha256 2a2e970526e4348d505d26356b830d96da9e32688c4de84841ac8137b62d5d32 Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.artifact_url https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12547740/fullTextXML Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.doi 10.1016/j.xhgg.2025.100521 Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.licence CC-BY-4.0 Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
attributes.limitations1 values
| Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.media_type application/xml Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.publication_status peer_reviewed Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.retrieved_at 2026-10-09T20:30:41Z Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.url https://doi.org/10.1016/j.xhgg.2025.100521 Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.version HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML Source metadata | Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools No field-specific location recorded Version: HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
Release 2026-10-09-ba02f2f4a36e · Record review: source checked
Technical metadata and extraction receipts
Stable ID: rna-splicing-20261009-source-drost2025
- areas
- dna-genomes
- contexts
- clinical_research
- url
- https://doi.org/10.1016/j.xhgg.2025.100521
- artifact url
- https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12547740/fullTextXML
- version
- HGG Advances 7(1):100521, published online 2025-09-22; PMC12547740 full-text XML
- retrieved at
- 2026-10-09T20:30:41Z
- artifact sha256
- 2a2e970526e4348d505d26356b830d96da9e32688c4de84841ac8137b62d5d32
- doi
- 10.1016/j.xhgg.2025.100521
- publication status
- peer_reviewed
- licence
- CC-BY-4.0
- media type
- application/xml
- limitations
- Results ('Additional splicing prediction tools can help predict variant effect on splicing', paragraph 2) prints SQUIRLS AUPRC 0.888; Data S1 Table S3 D13 stores 0.8815 (SPiP is 0.8886). The same section cites Table S3 for thresholded TPR, F1 and NPV, which are in Table S4. Both are prose slips; the stored values come from the tables.