| 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 (CNV calls returned for interpretation, copy number >4, all chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number >4, sex chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 0, all chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 0, sex chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 1, all chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 1, sex chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 2, all chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 2, sex chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 3, all chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 3, sex chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 4, all chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, copy number 4, sex chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, long CNVs, all chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, long CNVs, sex chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (all CNVs returned for interpretation) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (deletions returned for interpretation) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (duplications returned for interpretation) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (share of this caller's calls that are duplications) fraction · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (share of all CNV calls contributed by this caller) fraction · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, all classes, all chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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 (CNV calls returned for interpretation, all classes, sex chromosomes) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceClinCNV: 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) |
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