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Talos strict phenotype-match filtering, 2026 study

Talos with high-level phenotype-match filter required.

Overview

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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.

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	Candidates per case	Candidates per diagnosis	Count (candidate variants flagged)	True positives (known diagnoses)
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP singleton, Talos RGP singleton evaluation cohort	84% (best in column)	1.1	9.9	777	78
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG full, Talos ACG full evaluation cohort	83%	1	2.4	419	173
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG trio, Talos ACG trio evaluation cohort	83%	1.1	2.5	403	164
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP full, Talos RGP full evaluation cohort	83%	0.8	7.6	582	77
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: RGP trio, Talos RGP trio evaluation cohort	83%	0.9	7.4	335	45
Talos strict phenotype-match filtering, 2026 studyEvaluation	Talos diagnosis recovery and workload: ACG singleton, Talos ACG singleton evaluation cohort	77%	1.2	3	491	160

All 30 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 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 strict phenotype-match filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	491 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 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 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 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 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 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 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 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% 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 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 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 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 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 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 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 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 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 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% 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 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 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: 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 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: 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 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: 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 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: 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% 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: 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 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: 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 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: 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 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: 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 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: 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% 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: RGP singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, strict, Diagnoses (%)

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Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statement	Original source and location	Review and provenance
Facets: method types 1 values conventional_pipeline Individual claims	Automated versus manual reanalysis in rare disease genomics Original source ↗ Other Talos configurations; Kaschta 2026 Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	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-20261012-560402dbce88013eb55b Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. 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 Talos configurations; Kaschta 2026 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-20261012-560402dbce88013eb55b Source artifact SHA-256: `629b9578ac42717245256feca69dc9c9d5442deb7d282dd1bdc5a6c1a1efd2ec` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Relationship: configuration 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:configuration_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 2026-11-02-a7f03c9e55a5 · 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-talos-strict

areas: dna-genomes
contexts: clinical_research
method types: conventional_pipeline
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
missing metadata: software commit: reason: unextracted
parent identity review: source id: uc-clinical-20260930-source-talos; source locator: Results and Methods; Talos workflow; method: automated_source_review

Related records

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

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