81% case_recovery_top5
Exomiser v14 ACG trio rank-budget evaluation: case_recovery_top5
- Tested 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
- Related family profiles
- Exomiser
- Procedure
- Not reported
- Evaluation
- Exomiser v14 ACG trio rank-budget evaluation
- Coverage
- scored: unreported; eligible: unreported
- Uncertainty
- Not reported
- Evidence
- Author-reported evaluation · source checkedAutomated reanalysis of genomic data for rare disease diagnostics at scale · Results, Comparison with other tools, rank top5
A source-checked result verifies the numerical transcription, not every model or protocol detail. Evaluation metadata: source checked. Source checked does not mean independently reproduced.
Reproduction
- Split
- Not reported
- Adaptation
- Not reported
- Scoring implementation
- Source-defined endpoint; see result source_locator
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.
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.
1 evidence row matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Reported result 81% Individual claims | Automated reanalysis of genomic data for rare disease diagnostics at scale Results, Comparison with other tools, rank top5 Version: Nature Medicine 2026 final publication, 24 June 2026 | source checked automated source review · 2026-09-30 author reported Audit detailsTranscription from inspected primary source. No execution, independent replication or human scientific review. Field: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
View linked audit checks and correction history
Release 2026-09-30-e37e3ab1284d · Record review: source checked
1 source records and release history
- Automated reanalysis of genomic data for rare disease diagnostics at scale · Original source · Nature Medicine 2026 final publication, 24 June 2026
Technical metadata and extraction receipts
Stable ID: uc-clinical-20260930-exomiser-top5-percent
- areas
- dna-genomes
- contexts
- clinical_research
- metric
- case_recovery_top5
- unit
- percent
- printed value
- 81%
- numeric value
- 81
- metric direction
- higher
- uncertainty
- Not reported
- source locator
- Results, Comparison with other tools, rank top5
- review
- method: automated_source_review; reviewer: Codex clinical coverage worker; date: 2026-09-30; note: Transcription from inspected primary source. No execution, independent replication or human scientific review.; source id: uc-clinical-20260930-source-talos
- denominator
- 194
- missing metadata
- uncertainty: not reported for this endpoint
Related records
- evaluation: Exomiser v14 ACG trio rank-budget evaluation