interpretation_workload: rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation
Descriptive fact transcribed from the pinned source.
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.
6 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.field interpretation_workload Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Technical results' paragraph 2 Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.source_locator Results 'Technical results' paragraph 2 Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Technical results' paragraph 2 Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.value 7849 calls in 3436 affected individuals from 3300 families were returned for interpretation, a mean of 1.3 CNVs per proband or 2.4 per proband with at least one call; a further 393 CNV-SNV compound heterozygous pairs in 226 individuals were also returned. Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Technical results' paragraph 2 Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| description Descriptive fact transcribed from the pinned source. Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Technical results' paragraph 2 Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Relationship: subject rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Technical results' paragraph 2 Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| name interpretation_workload: rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Technical results' paragraph 2 Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML | not individually reviewed 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 2026-10-10-6e93f504adfc · Record review: source checked
1 source records and release history
- Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Original source · npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML
Technical metadata and extraction receipts
Stable ID: rare-reanalysis-20261009-claim-demidov2024-workload
- field
- interpretation_workload
- value
- 7849 calls in 3436 affected individuals from 3300 families were returned for interpretation, a mean of 1.3 CNVs per proband or 2.4 per proband with at least one call; a further 393 CNV-SNV compound heterozygous pairs in 226 individuals were also returned.
- source locator
- Results 'Technical results' paragraph 2
- review
- method: source-hash-verification; ai-assisted-source-review; method note: Re-downloaded the article XML and matched its SHA-256, extracted the cited paragraphs and tables with a separate parser and compared the claim text with them.; reviewer: claude; reviewer note: Separate Claude review agent, independent of the extractor; no human review claimed; date: 2026-10-09; artifact sha256: 8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6; retrieval url: https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11513043/fullTextXML; note: Transcribed from the pinned source. Independent review 2026-10-09: Matches Results 'Technical results' paragraph 2. Methods 'Clinical interpretation' also reports a mean of 5 minutes of expert interpretation per CNV, pooled over callers.