Configuration

Exomiser v14 default, Talos 2026 comparison

SNV/indel prioritization in ACG trios with default Exomiser v14; rank limits assessed separately.

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Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

Evaluations and results

1 evaluation · 8 results. Different protocols are not a single leaderboard.

Protocol: Exomiser rank-budget recovery in ACG trios · Dataset: ACG trios: Exomiser SNV/indel comparison as reported in Results

Sorted by Recall (rank: any) (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.

Tested configuration	Recall (rank: any)	Top-1 accuracy	Top-10 accuracy	Top-5 accuracy	Count (rank: any)	Count (rank: top 1)	Count (rank: top 10)	Count (rank: top 5)
Exomiser v14 default, Talos 2026 comparisonEvaluation	89%	65%	85%	81%	172	127	164	157

All 8 result rows with coverage, uncertainty and sources

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

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Exact evaluated configurations and original reported results
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 Count (rank: any) count · unknown Uncertainty: Not reported by the source: not reported for this endpoint Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Exomiser 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% Recall (rank: any) percent · higher Uncertainty: Not reported by the source: not reported for this endpoint Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Exomiser 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 Count (rank: top 1) count · unknown Uncertainty: Not reported by the source: not reported for this endpoint Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Exomiser 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% Top-1 accuracy percent · higher Uncertainty: Not reported by the source: not reported for this endpoint Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Exomiser 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 Count (rank: top 10) count · unknown Uncertainty: Not reported by the source: not reported for this endpoint Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Exomiser 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% Top-10 accuracy percent · higher Uncertainty: Not reported by the source: not reported for this endpoint Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Exomiser 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 Count (rank: top 5) count · unknown Uncertainty: Not reported by the source: not reported for this endpoint Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Exomiser 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% Top-5 accuracy percent · higher Uncertainty: Not reported by the source: not reported for this endpoint Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Exomiser 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 2026-11-02-a7f03c9e55a5.

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Evidence

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Evidence table

Inspect claims, sources and review details

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One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

3 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statement	Original source and location	Review and provenance
Facets: method types 1 values conventional_pipeline Individual claims	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases Original source ↗ Other Exomiser configurations; Yuan et al. 2022 Table 2 classes Exomiser by phenotype comparison Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Briefings in Bioinformatics 23(2):bbac019, published 2022-02-04; PMC8921623 full-text XML Retrieved: 2026-10-09T21:18:05Z	conflicting claim ["automated-source-review"] · 2026-10-12 Audit details Correct the method type from none to conventional_pipeline (use-case baseline review 2026-10-12, table 2). Evidence from docs/reviews/use-cases/baselines-2026-10-12.md. Independent review 2026-10-12: approved. See docs/reviews/2026-10-12-method-type-corrections.md. Conflicting source claim: `"[\"conventional_pipeline\"]"`. Claim record status: source_checked. Field: `facets.method_types` Claim: metadata-correction-tags-20261012-706a18ff979bdef437c2 Source artifact SHA-256: `a0e15e5a113ecbc1c8a3b17072a4028c55ae53c09ba0677d6fdb7601cfc8f1ca` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Facets: method types 1 values conventional_pipeline Individual claims	Automated reanalysis of genomic data for rare disease diagnostics at scale Original source ↗ Other Exomiser configurations; Yuan et al. 2022 Table 2 classes Exomiser by phenotype comparison Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Nature Medicine 2026 final publication, 24 June 2026 Retrieved: 2026-09-30T21:24:16Z	conflicting claim ["automated-source-review"] · 2026-10-12 Audit details Correct the method type from none to conventional_pipeline (use-case baseline review 2026-10-12, table 2). Evidence from docs/reviews/use-cases/baselines-2026-10-12.md. Independent review 2026-10-12: approved. See docs/reviews/2026-10-12-method-type-corrections.md. Conflicting source claim: `"[\"conventional_pipeline\"]"`. Claim record status: source_checked. Field: `facets.method_types` Claim: metadata-correction-tags-20261012-706a18ff979bdef437c2 Source artifact SHA-256: `629b9578ac42717245256feca69dc9c9d5442deb7d282dd1bdc5a6c1a1efd2ec` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Relationship: configuration of uc-clinical-20260930-method-exomiser Individual claims	Automated reanalysis of genomic data for rare disease diagnostics at scale Original source ↗ Comparison with other tools; Methods Version: Nature Medicine 2026 final publication, 24 June 2026 Retrieved: 2026-09-30T21:24:16Z	source checked ["automated-source-review"] · 2026-09-30 Audit details Transcription from inspected primary source. No execution, independent replication or human scientific review. Field: `links:configuration_of:uc-clinical-20260930-method-exomiser` Claim: uc-clinical-20260930-association-exomiser-v14 Source artifact SHA-256: `629b9578ac42717245256feca69dc9c9d5442deb7d282dd1bdc5a6c1a1efd2ec` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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Sources and history

Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

1 source record and release history

Automated reanalysis of genomic data for rare disease diagnostics at scale · Original source · Nature Medicine 2026 final publication, 24 June 2026

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Technical metadata and extraction receipts

Stable ID: uc-clinical-20260930-exomiser-v14

areas: dna-genomes
contexts: clinical_research
method types: conventional_pipeline
review: method: automated-source-review; reviewer: codex; 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; reviewer note: role: clinical coverage worker
missing metadata: knowledge release: reason: unextracted; minor version: reason: unreported
parent identity review: source id: uc-clinical-20260930-source-talos; source locator: Comparison with other tools; Methods; method: automated_source_review

Related records

configuration of: Exomiser
subject: Exomiser v14 default, Talos 2026 comparison: facets.method_types
subject: Configuration identity: Exomiser v14 default, Talos 2026 comparison
implemented by: Exomiser v14 phenotype/variant ranking baseline
system: Exomiser v14 ACG trio rank-budget evaluation

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