| 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) | 23 (9) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '>4' (value outside brackets) |
|---|
| 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) | 23 (9) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '>4' (value in brackets) |
|---|
| 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) | 218 (28) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '0' (value outside brackets) |
|---|
| 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) | 218 (28) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '0' (value in brackets) |
|---|
| 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) | 1342 (90) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '1' (value outside brackets) |
|---|
| 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) | 1342 (90) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '1' (value in brackets) |
|---|
| 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) | 38 (38) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '2' (value outside brackets) |
|---|
| 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) | 38 (38) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '2' (value in brackets) |
|---|
| 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) | 1948 (64) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '3' (value outside brackets) |
|---|
| 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) | 1948 (64) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '3' (value in brackets) |
|---|
| 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) | 134 (4) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '4' (value outside brackets) |
|---|
| 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) | 134 (4) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column '4' (value in brackets) |
|---|
| 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) | 502 (31) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'Long' (value outside brackets) |
|---|
| 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) | 502 (31) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'Long' (value in brackets) |
|---|
| 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) | 4.21 count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'all CNVs returned for interpretation' |
|---|
| 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) | 1.69 count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'deletions returned for interpretation' |
|---|
| 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) | 2.51 count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'duplications returned for interpretation' |
|---|
| 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) | 0,60 proportion fraction · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'share of this caller's calls that are duplications' |
|---|
| 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) | 0,54 proportion fraction · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'share of all CNV calls contributed by this caller' |
|---|
| 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) | 4,205 (264) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'Total' (value outside brackets) |
|---|
| 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) | 4,205 (264) count count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceExomeDepth: 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 'ExomeDepth', column 'Total' (value in brackets) |
|---|