Configuration

Talos strict phenotype-match filtering, 2026 study

Talos with high-level phenotype-match filter required.

Overview

Talos with high-level phenotype-match filter required.

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

Evaluations and results

6 evaluations · 30 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: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	419 candidate_variants count · unknown Uncertainty: Not reported 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_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 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_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 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 recovered_known_diagnoses count · unknown Uncertainty: Not reported 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% known_diagnosis_recovery percent · higher Uncertainty: Not reported 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 singleton Dataset: Talos ACG singleton evaluation cohort	491 candidate_variants count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: ACG singleton Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, strict, Candidate variants
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	1.2 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 strict: ACG singleton Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, strict, Candidates per proband
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	3 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 strict: ACG singleton Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, strict, Candidates per diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	160 recovered_known_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: ACG singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, strict, Diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	77% known_diagnosis_recovery percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: ACG singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, strict, Diagnoses (%)
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio evaluation cohort	403 candidate_variants count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: ACG trio Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, strict, Candidate variants
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio evaluation cohort	1.1 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 strict: ACG trio Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, strict, Candidates per proband
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio evaluation cohort	2.5 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 strict: ACG trio Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, strict, Candidates per diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio evaluation cohort	164 recovered_known_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: ACG trio Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, strict, Diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio evaluation cohort	83% known_diagnosis_recovery percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: ACG trio Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, strict, Diagnoses (%)
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	582 candidate_variants count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: RGP full Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, strict, Candidate variants
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	0.8 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 strict: RGP full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, strict, Candidates per proband
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	7.6 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 strict: RGP full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, strict, Candidates per diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	77 recovered_known_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: RGP full Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, strict, Diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	83% known_diagnosis_recovery percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: RGP full Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, strict, Diagnoses (%)
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	777 candidate_variants count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: RGP singleton Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, strict, Candidate variants
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	1.1 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 strict: RGP singleton Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, strict, Candidates per proband
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	9.9 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 strict: RGP singleton Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, strict, Candidates per diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	78 recovered_known_diagnoses count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: RGP singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, strict, Diagnoses
Configuration: Talos strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	84% known_diagnosis_recovery percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos strict: RGP singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, strict, Diagnoses (%)

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

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Evidence

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Claims, original sources and review scope · Release 2026-09-30-e37e3ab1284d
Property and statement	Original source and location	Review and provenance
Relationship: variant of uc-clinical-20260930-method-talos Individual claims	Automated reanalysis of genomic data for rare disease diagnostics at scale Original source ↗ Results and Methods; Talos workflow 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:variant_of:uc-clinical-20260930-method-talos` Claim: uc-clinical-20260930-association-talos-strict Source artifact SHA-256: `629b9578ac42717245256feca69dc9c9d5442deb7d282dd1bdc5a6c1a1efd2ec` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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

1 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

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Technical metadata and extraction receipts

Stable ID: uc-clinical-20260930-talos-strict

areas: dna-genomes
contexts: clinical_research
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
missing metadata: software commit: not extracted
parent identity review: source id: uc-clinical-20260930-source-talos; source locator: Results and Methods; Talos workflow; method: automated_source_review

Related records

variant of: Talos
subject: Configuration identity: Talos strict phenotype-match filtering, 2026 study
configuration: Talos strict: ACG full
configuration: Talos strict: ACG singleton
configuration: Talos strict: ACG trio
configuration: Talos strict: RGP full
configuration: Talos strict: RGP singleton
configuration: Talos strict: RGP trio

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