pathogenic_cnv_detection_by_caller: rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation
Descriptive fact transcribed from the pinned source.
Evidence
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Evidence table
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6 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.field pathogenic_cnv_detection_by_caller Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Diagnostic results' paragraph 2; Abstract 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 'Diagnostic results' paragraph 2; Abstract Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Diagnostic results' paragraph 2; Abstract 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 Of 77 confirmed pathogenic CNVs, 40 were initially identified by all three callers; for ten of these the Conifer call was later discarded below the SV-RPKM threshold, and one of those ten was also discarded by the ExomeDepth workflow for a low Bayes factor. Of the remaining 37, ClinCNV identified 36 (two later failed ClinCNV quality thresholds), ExomeDepth 25 (five later discarded for a low Bayes factor), and one was identified by Conifer alone. A diagnosis was provided to 51 families. Context-only references | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Results 'Diagnostic results' paragraph 2; Abstract 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 'Diagnostic results' paragraph 2; Abstract 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 'Diagnostic results' paragraph 2; Abstract 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 pathogenic_cnv_detection_by_caller: 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 'Diagnostic results' paragraph 2; Abstract 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-per-caller-detection
- field
- pathogenic_cnv_detection_by_caller
- value
- Of 77 confirmed pathogenic CNVs, 40 were initially identified by all three callers; for ten of these the Conifer call was later discarded below the SV-RPKM threshold, and one of those ten was also discarded by the ExomeDepth workflow for a low Bayes factor. Of the remaining 37, ClinCNV identified 36 (two later failed ClinCNV quality thresholds), ExomeDepth 25 (five later discarded for a low Bayes factor), and one was identified by Conifer alone. A diagnosis was provided to 51 families.
- source locator
- Results 'Diagnostic results' paragraph 2; Abstract
- 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: Wording corrected in review: the source says one of the ten discarded Conifer calls was also discarded by ExomeDepth; the gene of the single Conifer-only CNV was removed as case-level detail not needed here.