Method

Talos

Inheritance-aware genomic variant prioritization and iterative reanalysis.

13 evaluations · 74 results 2 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

13 evaluations · 74 results. Different protocols are not a single leaderboard.

Sorted by Recall (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	Protocol and dataset	Recall	Diagnostic yield (additional yield from reanalysis)	Candidates per case	Candidates per diagnosis	Count (candidate variants flagged)	True positives (known diagnoses)	Count (diagnoses: first cycle)	Count (diagnoses: improved analysis)	Count (diagnoses: later cycles)	Count (diagnoses: new confirmed)	Count (diagnoses: new gene-disease evidence)	Count (diagnoses: new variant evidence)	Count (newly diagnosed individuals)	New candidates per 1000 cases per cycle	Proportion (diagnoses: first cycle)	Proportion (diagnoses: improved analysis)	Proportion (diagnoses: later cycles)	Proportion (diagnoses: new gene-disease evidence)	Proportion (diagnoses: new variant evidence)
Talos default filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG trio, Talos ACG trio evaluation cohort	90% (best in column)	Not reported	1.3	2.8	487	177	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos default filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG full, Talos ACG full evaluation cohort	89%	Not reported	1.3	2.8	523	186	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos default filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP singleton, Talos RGP singleton evaluation cohort	87%	Not reported	2.2	18.4	1,491	81	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos default filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP trio, Talos RGP trio evaluation cohort	87%	Not reported	1.3	11	519	47	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos default filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP full, Talos RGP full evaluation cohort	86%	Not reported	1.6	13.7	1,095	80	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP singleton, Talos RGP singleton evaluation cohort	84%	Not reported	1.1	9.9	777	78	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG full, Talos ACG full evaluation cohort	83%	Not reported	1	2.4	419	173	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG trio, Talos ACG trio evaluation cohort	83%	Not reported	1.1	2.5	403	164	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP full, Talos RGP full evaluation cohort	83%	Not reported	0.8	7.6	582	77	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP trio, Talos RGP trio evaluation cohort	83%	Not reported	0.9	7.4	335	45	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos default filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG singleton, Talos ACG singleton evaluation cohort	82%	Not reported	1.8	4.3	729	170	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG singleton, Talos ACG singleton evaluation cohort	77%	Not reported	1.2	3	491	160	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported	Not reported
Talos monthly iterative reanalysis with clinical confirmationEvaluation	Talos programme reanalysis yield, Talos 4,735 unresolved individuals	Not reported	5.1%	Not reported	Not reported	Not reported	Not reported	221	109	20	241	78	54	238	5	92%	45%	8%	32%	22%

All 74 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: Talos monthly iterative reanalysis with clinical confirmation	Protocol: Talos programme reanalysis yield Dataset: Talos 4,735 unresolved individuals	5.1% Diagnostic yield (additional yield from reanalysis) 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 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 Count (diagnoses: first cycle) 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 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% Proportion (diagnoses: first cycle) percent · 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 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 Count (diagnoses: improved analysis) 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 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% Proportion (diagnoses: improved analysis) percent · 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 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 Count (diagnoses: later cycles) 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 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% Proportion (diagnoses: later cycles) percent · 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 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 cases per cycle variants-per-1000-cases-per-cycle · 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 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 Count (diagnoses: new confirmed) 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 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 Count (diagnoses: new gene-disease evidence) 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 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% Proportion (diagnoses: new gene-disease evidence) percent · 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 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 Count (diagnoses: new variant evidence) 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 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% Proportion (diagnoses: new variant evidence) percent · 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 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 Count (newly diagnosed individuals) 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 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 Count (candidate variants flagged) 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 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 case variants-per-proband · 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 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 diagnosis variants-per-diagnosis · 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 Talos default: ACG full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, default, Candidates per diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	186 True positives (known diagnoses) 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 Talos default: ACG full Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, default, Diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	89% Recall 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 Talos default: ACG full Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, default, Diagnoses (%)
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	419 Count (candidate variants flagged) 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 Talos strict: ACG full Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, strict, Candidate variants
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	1 Candidates per case variants-per-proband · 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 Talos strict: ACG full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, strict, Candidates per proband
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	2.4 Candidates per diagnosis variants-per-diagnosis · 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 Talos strict: ACG full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, strict, Candidates per diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	173 True positives (known diagnoses) 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 Talos strict: ACG full Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, strict, Diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	83% Recall 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 Talos strict: ACG full Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG full, strict, Diagnoses (%)
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	729 Count (candidate variants flagged) 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 Talos default: ACG singleton Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, default, Candidate variants

Source checking is not independent reproduction. Release 2026-11-02-a7f03c9e55a5.

Further results on linked records

2 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.

Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026) Configuration · configuration of this method · 3 evaluations · 17 results
Talos 8.2.0, proband-only mode on trio cases (Kaschta et al. 2026) Configuration · configuration of this method · 1 evaluation · 1 result

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Talos default filtering, 2026 study · configuration of
Talos monthly iterative reanalysis with clinical confirmation · configuration of
Talos strict phenotype-match filtering, 2026 study · configuration of

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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-talos

areas: dna-genomes
contexts: clinical_research
source locator: Results and Methods; Talos workflow
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

configuration of: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)
configuration of: Talos 8.2.0, proband-only mode on trio cases (Kaschta et al. 2026)
configuration of: Talos default filtering, 2026 study
configuration of: Talos monthly iterative reanalysis with clinical confirmation
configuration of: Talos strict phenotype-match filtering, 2026 study

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