Talos 2026 evaluation and reanalysis study

Overview

Published-study grouping of the catalogued evaluation protocols. This grouping does not claim an executable suite, full-paper extraction or independent clinical validation.

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

14 recorded evaluations, 82 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

View coverage and remaining gaps across all benchmarks

Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

14 evaluations · 82 results. Different protocols are not a single leaderboard.

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Tested model or methodProtocolDatasetEvaluation setupMetricEvidence origin

Applied filters: All linked evaluations

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
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	5.1% additional_diagnostic_yield percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning Review of Talos output
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	221 first_cycle_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning Twenty-nine cycles
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	92% first_cycle_share percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning Twenty-nine cycles
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	109 improved_analysis_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning More than half
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	45% improved_analysis_share percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning More than half
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	20 later_cycle_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning Twenty-nine cycles
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	8% later_cycle_share percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning Twenty-nine cycles
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	5 new_candidates_per_1000 variants per 1000 cases per cycle · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning During iterative reanalysis
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	241 new_confirmed_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning Review of Talos output
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	78 new_gene_disease_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning More than half
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	32% new_gene_disease_share percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning More than half
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	54 new_variant_evidence_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning More than half
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	22% new_variant_evidence_share percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning More than half
Configuration: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	238 newly_diagnosed_individuals count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos monthly reanalysis programme Not reported Aggregation: Not reported Automated reanalysis of genomic data for rare disease diagnostics at scale · Results, Iterative reanalysis, paragraph beginning Review of Talos output
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	523 candidate_variants count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos default: ACG full Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, default, Candidate variants
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	1.3 candidates_per_proband variants per proband · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos default: ACG full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, default, Candidates per proband
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	2.8 candidates_per_recovered_diagnosis variants per diagnosis · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos default: ACG full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, default, Candidates per diagnoses

Source checking is not independent reproduction. Release 2026-09-30-e37e3ab1284d.

Methods and evaluation design

Procedure, tasks and evaluated configurations

Evaluation design

Benchmarks bring together tasks and protocols. A task describes the biological question; a protocol defines a particular test.

Protocols

These source-backed links do not make different protocols or scores interchangeable.

Baseline coverage

Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.

0 of 16 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.

Baseline status by linked protocol

Exomiser rank-budget recovery in ACG trios · 0/2 roles measured
Talos programme reanalysis yield · 0/2 roles measured
Talos diagnosis recovery and workload: ACG full · 0/2 roles measured
Talos diagnosis recovery and workload: ACG singleton · 0/2 roles measured
Talos diagnosis recovery and workload: ACG trio · 0/2 roles measured
Talos diagnosis recovery and workload: RGP full · 0/2 roles measured
Talos diagnosis recovery and workload: RGP singleton · 0/2 roles measured
Talos diagnosis recovery and workload: RGP trio · 0/2 roles measured

Protocol coverage CSV · Model evaluation matrix · Source table · Release and checksums

Coverage is derived from release 2026-09-30-e37e3ab1284d. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.

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Run instructions

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Evidence

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Evidence table

Inspect claims, sources and review details

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Claims, original sources and review scope · Release 2026-09-30-e37e3ab1284d
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Sources and history

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Release 2026-09-30-e37e3ab1284d · Record review: source checked

2 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
Talos Table 1: complete evaluation cohort outcomes · Original source · Table 1 in final 2026 article

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Technical metadata and extraction receipts

Stable ID: uc-clinical-20260930-benchmark-talos-study

areas: dna-genomes
contexts: clinical_research
entity level: suite
grouping type: published_study_evaluations
executable suite: false
source locator: Table1; Results comparison with other tools and iterative reanalysis
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

Related records

part of: Exomiser rank-budget recovery in ACG trios
part of: Talos programme reanalysis yield
part of: Talos diagnosis recovery and workload: ACG full
part of: Talos diagnosis recovery and workload: ACG singleton
part of: Talos diagnosis recovery and workload: ACG trio
part of: Talos diagnosis recovery and workload: RGP full
part of: Talos diagnosis recovery and workload: RGP singleton
part of: Talos diagnosis recovery and workload: RGP trio