Evaluation

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

Published reanalysis method comparison; transcribed, not reproduced.

Research readiness

These checks assess whether the evidence supports a reproducible investigation. A source-checked score alone does not meet these requirements.

Release 2026-10-10-6e93f504adfc · Evidence verified: Not verified

Evidence incomplete

Replay metrics

Exact outcomes, predictions, identifiers and evaluator are connected.

Missing or unresolved evidence

No verified artifact manifest is linked to this exact record.
artifact hashes: verification is missing
join integrity: verification is missing
score semantics: verification is missing
metric replay: verification is missing

Verified: Not verified

Evidence incomplete

Investigate discrepancies

Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.

Missing or unresolved evidence

No verified artifact manifest is linked to this exact record.
artifact hashes: verification is missing
join integrity: verification is missing
score semantics: verification is missing
metric replay: verification is missing
annotations: verification is missing
dependence: verification is missing

Verified: Not verified

Evidence incomplete

Run locally

A pinned recipe describes the inputs, environment and resource requirements.

Missing or unresolved evidence

No verified artifact manifest is linked to this exact record.
artifact hashes: verification is missing
join integrity: verification is missing
score semantics: verification is missing
recipe pinned: verification is missing
resource estimate: verification is missing

Verified: Not verified

Evidence incomplete

Validate independently

Separate data and exposure records support an independent test.

Missing or unresolved evidence

No verified artifact manifest is linked to this exact record.
artifact hashes: verification is missing
join integrity: verification is missing
score semantics: verification is missing
independent validation: verification is missing
overlap checked: verification is missing

Verified: Not verified

Readiness describes the evidence in this release. Availability on your computer is checked separately when an investigation runs. Existing data exposure can prevent independent validation even when files are available.

Artifacts and reproduction

No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.

Read reviewed discrepancy investigations

Evaluation results

1 evaluation · 21 results. Different protocols are not a single leaderboard.

Filter evaluations

Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
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)	28 (2) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '>4' (value outside brackets)
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)	28 (2) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '>4' (value in brackets)
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)	283 (206) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '0' (value outside brackets)
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)	283 (206) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '0' (value in brackets)
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)	1,203 (64) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '1' (value outside brackets)
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)	1,203 (64) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '1' (value in brackets)
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)	99 (99) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '2' (value outside brackets)
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)	99 (99) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '2' (value in brackets)
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)	776 (29) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '3' (value outside brackets)
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)	776 (29) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '3' (value in brackets)
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)	145 (1) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '4' (value outside brackets)
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)	145 (1) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column '4' (value in brackets)
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)	248 (68) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column 'Long' (value outside brackets)
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)	248 (68) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column 'Long' (value in brackets)
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)	2.78 count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) · Supplementary Table 4 (page with heading 'Supplementary Table 4'), row 'ClinCNV', column 'all CNVs returned for interpretation'
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)	1.56 count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) · Supplementary Table 4 (page with heading 'Supplementary Table 4'), row 'ClinCNV', column 'deletions returned for interpretation'
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)	1.22 count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) · Supplementary Table 4 (page with heading 'Supplementary Table 4'), row 'ClinCNV', column 'duplications returned for interpretation'
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)	0,44 proportion fraction · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Demidov 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'
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)	0,35 proportion fraction · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) · Supplementary Table 4 (page with heading 'Supplementary Table 4'), row 'ClinCNV', column 'share of all CNV calls contributed by this caller'
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)	2,782 (469) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column 'Total' (value outside brackets)
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)	2,782 (469) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source ClinCNV: CNV calls returned for interpretation (Solve-RD) rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation Aggregation: Not reported Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses · Table 1, row 'ClinCNV', column 'Total' (value in brackets)

Source checking is not independent reproduction. Release 2026-10-10-6e93f504adfc.

Evaluation procedure

rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation

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)

origin: Author-reported evaluation
configuration: Primary source as retrieved 2026-10-09
protocol id: rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation
dataset version: Solve-RD exomes, 9171 datasets
split: No split
population: 5757 unsolved families
inputs: Exome alignments re-processed centrally
adaptation: Caller-specific thresholds and ERN filters
metric implementation: Count of calls returned for interpretation
aggregation: Whole cohort
budget: Not reported

Metadata review: source checked. Unreported conditions prevent automatic comparisons.

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.

38 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-6e93f504adfc
Property and statement	Original source and location	Review and provenance
attributes.comparison.adaptation Caller-specific thresholds and ERN filters Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML Retrieved: 2026-10-09T20:40:13Z	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.adaptation Caller-specific thresholds and ERN filters Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.aggregation Whole cohort Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML Retrieved: 2026-10-09T20:40:13Z	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.aggregation Whole cohort Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.budget Not reported Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML Retrieved: 2026-10-09T20:40:13Z	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.budget Not reported Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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	missing or unspecified No individual claim review recorded author reported Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.dataset_version Solve-RD exomes, 9171 datasets Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML Retrieved: 2026-10-09T20:40:13Z	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.dataset_version Solve-RD exomes, 9171 datasets Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.inputs Exome alignments re-processed centrally Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: npj Genomic Medicine 9:49, published online 2024-10-26; PMC11513043 full-text XML Retrieved: 2026-10-09T20:40:13Z	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.comparison.inputs Exome alignments re-processed centrally Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV' Shared locator for this statement’s cited sources; not a separate locator for each citation. 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	not individually reviewed No individual claim review recorded author reported Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

All evidence (JSONL) (gzip)How to read the evidence

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)

Download this release (gzip)

Technical metadata and extraction receipts

Stable ID: rare-reanalysis-20261009-eval-demidov2024-clincnv

areas: dna-genomes
contexts: clinical_research
origin: author_reported
protocol: rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation
version: Primary source as retrieved 2026-10-09
comparison: protocol id: rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation; dataset version: Solve-RD exomes, 9171 datasets; split: No split; population: 5757 unsolved families; inputs: Exome alignments re-processed centrally; adaptation: Caller-specific thresholds and ERN filters; metric implementation: Count of calls returned for interpretation; aggregation: Whole cohort; budget: Not reported
source locator: Table 1 row 'ClinCNV'; Supplementary Table 4 row 'ClinCNV'
limitations: ClinCNV was developed by the paper's first author: Methods ('Alignment and definition of capture regions of interest' paragraph 2) calls it 'developed recently by a Solve-RD partner' and cites ref. 47, G. Demidov's 2019 thesis; the Author contributions list G.D. under Software. This row is therefore author_reported.

Related records

Suggest a correction