Results and Methods describe 194 SNV/indel-diagnosed families. Extended Data Fig. 1 instead states N=190; this discrepancy is unresolved.
These checks assess whether the evidence supports a reproducible investigation. A source-checked score alone does not meet these requirements.
Release 2026-09-30-e37e3ab1284d · Evidence verified: Not verified
Exact outcomes, predictions, identifiers and evaluator are connected.
Missing or unresolved evidence
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Missing or unresolved evidence
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A pinned recipe describes the inputs, environment and resource requirements.
Missing or unresolved evidence
Verified: Not verified
Separate data and exposure records support an independent test.
Missing or unresolved evidence
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1 evaluation · 8 results. Different protocols are not a single leaderboard.
Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: Exomiser v14 default, Talos 2026 comparison | Protocol: Exomiser rank-budget recovery in ACG trios Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results | 172 recovered_cases_all count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser v14 ACG trio rank-budget evaluation Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank all |
| Configuration: Exomiser v14 default, Talos 2026 comparison | Protocol: Exomiser rank-budget recovery in ACG trios Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results | 89% case_recovery_all percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser v14 ACG trio rank-budget evaluation Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank all |
| Configuration: Exomiser v14 default, Talos 2026 comparison | Protocol: Exomiser rank-budget recovery in ACG trios Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results | 127 recovered_cases_top1 count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser v14 ACG trio rank-budget evaluation Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank top1 |
| Configuration: Exomiser v14 default, Talos 2026 comparison | Protocol: Exomiser rank-budget recovery in ACG trios Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results | 65% case_recovery_top1 percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser v14 ACG trio rank-budget evaluation Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank top1 |
| Configuration: Exomiser v14 default, Talos 2026 comparison | Protocol: Exomiser rank-budget recovery in ACG trios Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results | 164 recovered_cases_top10 count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser v14 ACG trio rank-budget evaluation Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank top10 |
| Configuration: Exomiser v14 default, Talos 2026 comparison | Protocol: Exomiser rank-budget recovery in ACG trios Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results | 85% case_recovery_top10 percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser v14 ACG trio rank-budget evaluation Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank top10 |
| Configuration: Exomiser v14 default, Talos 2026 comparison | Protocol: Exomiser rank-budget recovery in ACG trios Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results | 157 recovered_cases_top5 count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser v14 ACG trio rank-budget evaluation Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank top5 |
| Configuration: Exomiser v14 default, Talos 2026 comparison | Protocol: Exomiser rank-budget recovery in ACG trios Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results | 81% case_recovery_top5 percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceExomiser v14 ACG trio rank-budget evaluation Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank top5 |
Source checking is not independent reproduction. Release 2026-09-30-e37e3ab1284d.
A dataset supplies biological observations. The evaluation protocol defines how those observations are split, used and scored.
Source checking verifies the cited claim or transcription. It does not establish independent reproduction.
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.
4 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.conflicting_denominator 190 Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale No field-specific location recorded Version: Nature Medicine 2026 final publication, 24 June 2026 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.reported_denominator 194 Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale No field-specific location recorded Version: Nature Medicine 2026 final publication, 24 June 2026 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| description Results and Methods describe 194 SNV/indel-diagnosed families. Extended Data Fig. 1 instead states N=190; this discrepancy is unresolved. Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale No field-specific location recorded Version: Nature Medicine 2026 final publication, 24 June 2026 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| name ACG trios: Exomiser SNV/indel comparison as reported in Results Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale No field-specific location recorded Version: Nature Medicine 2026 final publication, 24 June 2026 | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
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Release 2026-09-30-e37e3ab1284d · Record review: source checked
Stable ID: uc-clinical-20260930-exomiser-acg-data