Efficient reinterpretation of rare disease cases using Exomiser
Primary source retrieved and hashed for the rare-disease reanalysis use-case pass.
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.
20 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.artifact_sha256 b8cd48ed7e4a337ddf954d1b9bb004305ac78c383268592828e6203418d04058 Source metadata | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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/PMC11655964/fullTextXML Source metadata | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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 10.1038/s41525-024-00456-2 Source metadata | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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-NC-ND-4.0 Source metadata | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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 | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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 | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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 2026-10-09T20:36:38Z Source metadata | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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.source_locator Licence statement in the article XML <license> element: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 Source metadata | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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/10.1038/s41525-024-00456-2 Source metadata | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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.venue npj Genomic Medicine Source metadata | Efficient reinterpretation of rare disease cases using Exomiser No field-specific location recorded Version: npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 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 2026-10-10-7fcc3e48a123 · Record review: source checked
Technical metadata and extraction receipts
Stable ID: rare-reanalysis-20261009-source-vestito2024
- areas
- dna-genomes
- contexts
- clinical_research
- url
- https://doi.org/10.1038/s41525-024-00456-2
- artifact url
- https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11655964/fullTextXML
- version
- npj Genomic Medicine 9:65, published 2024-12-18; PMC11655964 full-text XML
- retrieved at
- 2026-10-09T20:36:38Z
- artifact sha256
- b8cd48ed7e4a337ddf954d1b9bb004305ac78c383268592828e6203418d04058
- doi
- 10.1038/s41525-024-00456-2
- publication status
- peer_reviewed
- licence
- CC-BY-NC-ND-4.0
- media type
- application/xml
- venue
- npj Genomic Medicine
- year
- 2024
- source locator
- Licence statement in the article XML <license> element: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0