Dataset

Solve-RD unsolved rare-disease exomes reanalysed for CNVs (Demidov et al. 2024)

Exome datasets that local analysis had not resolved, pooled across 42 research groups and four European Reference Networks.

Research readiness

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

Release 2026-10-10-7fcc3e48a123 · Evidence verified: Not verified

Evidence incomplete

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Exact outcomes, predictions, identifiers and evaluator are connected.

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score semantics: verification is missing
metric replay: verification is missing

Verified: Not verified

Evidence incomplete

Investigate discrepancies

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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

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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

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)

Source checking is not independent reproduction. Release 2026-10-10-7fcc3e48a123.

Dataset and evaluation context

A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.

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.

14 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-7fcc3e48a123
Property and statement	Original source and location	Review and provenance
attributes.denominator 5757 Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.denominator` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.denominator 5757 Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.denominator` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.population 9171 exome datasets from 5757 families (6143 affected individuals) affected by a rare disease, generated with 28 enrichment kits by 42 research groups; each group had already analysed its data without a diagnosis. Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.population` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.population 9171 exome datasets from 5757 families (6143 affected individuals) affected by a rare disease, generated with 28 enrichment kits by 42 research groups; each group had already analysed its data without a diagnosis. Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.population` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.source_locator Abstract; Introduction paragraph 5; Supplementary Table 3 Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.source_locator` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.source_locator Abstract; Introduction paragraph 5; Supplementary Table 3 Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.source_locator` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.split No split; analysed in 28 batches by enrichment kit Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.split` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.split No split; analysed in 28 batches by enrichment kit Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.split` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.version Solve-RD exome data as analysed in Demidov et al. 2024 Context-only references	Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.version` Source artifact SHA-256: `8bd0d50c0f3a1018c1f5ada9088a748d27d787eb5598e9857d2ddede85854ce6` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
attributes.version Solve-RD exome data as analysed in Demidov et al. 2024 Context-only references	Demidov et al. 2024, Supplementary Information (Supplementary Tables 1-5) Original source ↗ Abstract; Introduction paragraph 5; Supplementary Table 3 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 Audit details Field: `attributes.version` Source artifact SHA-256: `521480b4999903af5acfac1c33c9453ce1f1e5a8b641a1682c5e96e11aa577ef` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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Sources and history

Release 2026-10-10-7fcc3e48a123 · 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)

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Technical metadata and extraction receipts

Stable ID: rare-reanalysis-20261009-data-demidov2024-solverd-unsolved-exomes

areas: dna-genomes
contexts: clinical_research
version: Solve-RD exome data as analysed in Demidov et al. 2024
population: 9171 exome datasets from 5757 families (6143 affected individuals) affected by a rare disease, generated with 28 enrichment kits by 42 research groups; each group had already analysed its data without a diagnosis.
split: No split; analysed in 28 batches by enrichment kit
denominator: 5757
source locator: Abstract; Introduction paragraph 5; Supplementary Table 3

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