Protocol

CNV calls returned to clinical experts per caller after filtering, Solve-RD exome reanalysis (Demidov et al. 2024 Table 1, Supplementary Table 4)

Number of rare CNV calls each caller contributed for expert interpretation, by copy number and type, on the same unsolved cohort.

3 evaluations · 63 results

Overview

Number of rare CNV calls each caller contributed for expert interpretation, by copy number and type, on the same unsolved cohort.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

3 recorded evaluations, 63 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

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Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

3 evaluations · 63 results. Different protocols are not a single leaderboard.

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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)
Configuration: Conifer 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 (0) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Conifer: 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 'Conifer', column '>4' (value outside brackets)
Configuration: Conifer 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 (0) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Conifer: 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 'Conifer', column '>4' (value in brackets)
Configuration: Conifer 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)	5 (4) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Conifer: 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 'Conifer', column '0' (value outside brackets)
Configuration: Conifer 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)	5 (4) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Conifer: 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 'Conifer', column '0' (value in brackets)

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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)

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Technical metadata and extraction receipts

Stable ID: rare-reanalysis-20261009-protocol-demidov2024-cnv-calls-for-interpretation

areas: dna-genomes
contexts: clinical_research
protocol: Each caller's calls after tool-specific quality filters, removal of commonly observed events and restriction to genes on the relevant ERN gene list, counted as returned to the submitting clinical experts for interpretation. Long CNVs are counted separately from the copy-number classes; bracketed values are the sex-chromosome subset.
version: Table 1 and Supplementary Table 4
denominator: 5757
source locator: Results 'Technical results' paragraphs 2-3; Table 1; Supplementary Table 4
limitations: Measures review workload per caller, not new diagnoses per caller; per-caller detection of the confirmed pathogenic CNVs is printed only in the Results text (claim on this protocol).; Calling and filtering thresholds differ between callers and ERNs, so counts reflect each caller as configured.; ClinCNV was developed by the paper's first author (ref. 47; Author contributions).; A CNV found by more than one caller was returned once per caller (Supplementary Table 2, 'Tool' annotation), so per-caller counts overlap and their sum (7849) counts calls, not distinct CNVs.
missing metadata: uncertainty: reason: inapplicable; note: Counts from a single analysis

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