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Release 2026-09-30-e37e3ab1284d · Evidence verified: Not verified
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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.
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No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.
Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.
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One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.
17 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.comparison.adaptation Not reported Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | missing or unspecified No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.aggregation Not reported Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | missing or unspecified No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.budget Not reported Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | missing or unspecified No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.dataset_version Not reported Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | missing or unspecified No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.inputs Not reported Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | missing or unspecified No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.metric_implementation Source-defined endpoint; see result source_locator Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | not individually reviewed No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.population ACG trios: Exomiser SNV/indel comparison as reported in Results Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | not individually reviewed No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.protocol_id uc-clinical-20260930-exomiser-acg-protocol Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | not individually reviewed No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.comparison.split Not reported Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | missing or unspecified No individual claim review recorded author reported Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.origin author_reported Context-only references | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools Version: Nature Medicine 2026 final publication, 24 June 2026 | not individually reviewed No individual claim review recorded author reported 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-evaluation