502 (31) count
demidov2024-exomedepth count (CNV calls returned for interpretation, long CNVs, sex chromosomes)
- Tested configuration
- ExomeDepth in the Solve-RD exome CNV reanalysis (Demidov et al. 2024)
- Protocol
- CNV calls returned to clinical experts per caller after filtering, Solve-RD exome reanalysis (Demidov et al. 2024 Table 1, Supplementary Table 4)
- Dataset
- Solve-RD unsolved rare-disease exomes reanalysed for CNVs (Demidov et al. 2024)
- Procedure
- rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation
- Evaluation
- ExomeDepth: CNV calls returned for interpretation (Solve-RD)
- Coverage
- Not reported scored / Not reported eligible
- Uncertainty
- Not reported by the source
- Evidence
- Independent external evaluation · source checkedComprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ExomeDepth', column 'Long' (value in brackets)
A source-checked result verifies the numerical transcription, not every model or protocol detail. Evaluation metadata: source checked. Source checked does not mean independently reproduced.
Reproduction
- Split
- No split
- Adaptation
- Caller-specific thresholds and ERN filters
- Scoring implementation
- Count of calls returned for interpretation
No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.
Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.
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.
1 evidence row matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Reported result 502 (31) Individual claims | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Table 1, row 'ExomeDepth', column 'Long' (value in brackets) Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML | source checked ["source-hash-verification","deterministic-table-parse","independent-cell-check"] · 2026-10-09 independent paper Audit detailsExtracted by deterministic parse of the pinned Europe PMC full-text XML (extract/extract_rare_reanalysis.py), with row and column labels asserted. printed_value is the cell text as printed. Independent review 2026-10-09: matches Table 1 (table-wrap id 'Tab1'). The row's seven class cells sum to its Total cell, for the all-chromosome and the bracketed sex-chromosome values. Field: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record Extraction artifact SHA-256: |
Sources and history
Release 2026-10-10-6e93f504adfc · Record review: source checked
2 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
- Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) · Original source · 41525_2024_436_MOESM1_ESM.pdf from the Europe PMC supplementary bundle (hash is of the PDF; the bundle zip is rebuilt per request)
Technical metadata and extraction receipts
Stable ID: rare-reanalysis-20261009-result-demidov2024-exomedepth-long-sex-chromosomes
- metric
- count
- metric direction
- unknown
- unit
- count
- printed value
- 502 (31)
- numeric value
- 31
- source locator
- Table 1, row 'ExomeDepth', column 'Long' (value in brackets)
- missing metadata
- uncertainty: reason: unreported
- metric qualifier
- CNV calls returned for interpretation, long CNVs, sex chromosomes
- unit detail
- CNV calls
- review
- method: source-hash-verification; deterministic-table-parse; independent-cell-check; method note: Re-downloaded the artifact and matched its SHA-256. Read the cell with a separate parser written for this review; the extractor script was not imported or run. Checked printed and numeric value, locator, metric, qualifier, unit, direction and the linked evaluation, configuration, protocol and dataset.; 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: Extracted by deterministic parse of the pinned Europe PMC full-text XML (extract/extract_rare_reanalysis.py), with row and column labels asserted. printed_value is the cell text as printed. Independent review 2026-10-09: matches Table 1 (table-wrap id 'Tab1'). The row's seven class cells sum to its Total cell, for the all-chromosome and the bracketed sex-chromosome values.
- scope note
- value in brackets (sex-chromosome subset, table footnote)