Result

0,44 proportion

demidov2024-clincnv proportion (share of this caller's calls that are duplications)

Tested configuration: ClinCNV 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: ClinCNV: CNV calls returned for interpretation (Solve-RD)
Coverage: Not reported scored / Not reported eligible
Uncertainty: Not reported by the source
Evidence: Author-reported evaluation · source checkedDemidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) · Supplementary Table 4 (page with heading 'Supplementary Table 4'), row 'ClinCNV', column 'share of this caller's calls that are duplications'

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

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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

Claims, original sources and review scope · Release 2026-10-10-7fcc3e48a123
Property and statement	Original source and location	Review and provenance
Reported result 0,44 Individual claims	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Supplementary Table 4 (page with heading 'Supplementary Table 4'), row 'ClinCNV', column 'share of this caller's calls that are duplications' Version: 41525_2024_436_MOESM1_ESM.pdf from the Europe PMC supplementary bundle (hash is of the PDF; the bundle zip is rebuilt per request) Retrieved: 2026-10-09T20:40:40Z	source checked ["source-hash-verification","pdf-text-parse","independent-cell-check"] · 2026-10-09 author reported Audit details Extracted by deterministic parse of `pdftotext -layout` output of the pinned supplementary PDF (extract/extract_rare_reanalysis.py), with row and column labels asserted. printed_value is the token as printed. Independent review 2026-10-09: matches Supplementary Table 4 (pdftotext -layout, poppler 26.08.0). European formatting converted: '.' is a thousands separator, ',' the decimal separator. Deletions plus duplications equal all CNVs, all CNVs equal the Table 1 total for the caller, and both proportions recompute from the counts to two decimals. The Europe PMC supplementaryFiles bundle returned HTTP 500 on 2026-10-09; the same file was retrieved from the publisher URL given here and its bytes match the pinned SHA-256. Field: `attributes.printed_value` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact Extraction artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Extraction artifact

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Sources and history

Release 2026-10-10-7fcc3e48a123 · Record review: source checked

2 source records and release history

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)
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

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Technical metadata and extraction receipts

Stable ID: rare-reanalysis-20261009-result-demidov2024-clincnv-s4-share-duplications

metric: proportion
metric direction: unknown
unit: fraction
printed value: 0,44
numeric value: 0.44
source locator: Supplementary Table 4 (page with heading 'Supplementary Table 4'), row 'ClinCNV', column 'share of this caller's calls that are duplications'
missing metadata: uncertainty: reason: unreported
metric qualifier: share of this caller's calls that are duplications
numeric representation: Supplementary Table 4 prints '.' as a thousands separator and ',' as the decimal separator; the row totals match Table 1 (for example 2.782 here and 2,782 in Table 1)
review: method: source-hash-verification; pdf-text-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: 521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef; retrieval url: https://static-content.springer.com/esm/art%3A10.1038%2Fs41525-024-00436-6/MediaObjects/41525_2024_436_MOESM1_ESM.pdf; note: Extracted by deterministic parse of `pdftotext -layout` output of the pinned supplementary PDF (extract/extract_rare_reanalysis.py), with row and column labels asserted. printed_value is the token as printed. Independent review 2026-10-09: matches Supplementary Table 4 (pdftotext -layout, poppler 26.08.0). European formatting converted: '.' is a thousands separator, ',' the decimal separator. Deletions plus duplications equal all CNVs, all CNVs equal the Table 1 total for the caller, and both proportions recompute from the counts to two decimals. The Europe PMC supplementaryFiles bundle returned HTTP 500 on 2026-10-09; the same file was retrieved from the publisher URL given here and its bytes match the pinned SHA-256.

Related records

evaluation: ClinCNV: CNV calls returned for interpretation (Solve-RD)

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