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Method

Exomiser

Phenotype-aware and variant-aware rare-disease prioritization method.

1 evaluation · 8 results40 configurations with further results

Overview

An explanatory profile has not yet been reviewed for this record.

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 configurationRecall (rank: any)Top-1 accuracyTop-10 accuracyTop-5 accuracyCount (rank: any)Count (rank: top 1)Count (rank: top 10)Count (rank: top 5)
Exomiser v14 default, Talos 2026 comparisonEvaluation89%65%85%81%172127164157
All 8 result rows with coverage, uncertainty and sources
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Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: Exomiser v14 default, Talos 2026 comparisonProtocol: 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 comparisonProtocol: 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 comparisonProtocol: 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 comparisonProtocol: 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 comparisonProtocol: 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 comparisonProtocol: 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 comparisonProtocol: 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 comparisonProtocol: 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.

Further results on linked records

40 linked records have results that are not included above, because no reviewed claim yet ties the link to this method. Each record keeps its own settings and evaluations, and its scores are on its own page.

47 further linked records are listed under Related records.

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How it works, versions and access

Versions and evaluated configurations

Evidence

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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.

2 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statementOriginal source and locationReview 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-dbbfeef91a6cd8b4259a

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-dbbfeef91a6cd8b4259a

Source artifact SHA-256: 629b9578ac42717245256feca69dc9c9d5442deb7d282dd1bdc5a6c1a1efd2ec

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

How to read the evidence

Sources and history

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

1 source record and release historyDownload this release (gzip)
Technical metadata and extraction receipts

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

areas
dna-genomes
contexts
clinical_research
method types
conventional_pipeline
source locator
Comparison with other tools; Methods
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
Related records

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