Method

Exomiser

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

Overview

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

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.

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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 recovered_cases_all count · unknown Uncertainty: Not reported 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% case_recovery_all percent · higher Uncertainty: Not reported 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 recovered_cases_top1 count · unknown Uncertainty: Not reported 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% case_recovery_top1 percent · higher Uncertainty: Not reported 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 recovered_cases_top10 count · unknown Uncertainty: Not reported 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% case_recovery_top10 percent · higher Uncertainty: Not reported 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 recovered_cases_top5 count · unknown Uncertainty: Not reported 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% case_recovery_top5 percent · higher Uncertainty: Not reported 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 2026-09-30-e37e3ab1284d.

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Exomiser v14 default, Talos 2026 comparison · variant of

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Evidence

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Claims, original sources and review scope · Release 2026-09-30-e37e3ab1284d
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Release 2026-09-30-e37e3ab1284d · Record review: source checked

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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-method-exomiser

areas: dna-genomes
contexts: clinical_research
source locator: Comparison with other tools; Methods
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

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variant of: Exomiser v14 default, Talos 2026 comparison

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