Configuration

Talos default filtering, 2026 study

Inheritance-aware filtering and current PanelApp/ClinVar evidence; unranked candidate set.

Rank rare-disease variants for reviewEvidence from Talos default filtering, 2026 study. See the use case for scope and transfer limitations.
Rank rare-disease variants for reviewEvidence from Talos default filtering, 2026 study. See the use case for scope and transfer limitations.
Rank rare-disease variants for reviewEvidence from Talos default filtering, 2026 study. See the use case for scope and transfer limitations.
Rank rare-disease variants for reviewEvidence from Talos default filtering, 2026 study. See the use case for scope and transfer limitations.
Rank rare-disease variants for reviewEvidence from Talos default filtering, 2026 study. See the use case for scope and transfer limitations.
Rank rare-disease variants for reviewEvidence from Talos default filtering, 2026 study. See the use case for scope and transfer limitations.

Overview

Inheritance-aware filtering and current PanelApp/ClinVar evidence; unranked candidate set.

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.

Filter evaluations

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 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
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG full Dataset: Talos ACG full evaluation cohort	186 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 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% 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 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 singleton Dataset: Talos ACG singleton evaluation cohort	729 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 singleton Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, default, Candidate variants
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	1.8 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 default: ACG singleton Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, default, Candidates per proband
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	4.3 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 default: ACG singleton Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, default, Candidates per diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	170 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 default: ACG singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, default, Diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG singleton Dataset: Talos ACG singleton evaluation cohort	82% 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 default: ACG singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG singleton, default, Diagnoses (%)
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio evaluation cohort	487 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 trio Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, default, Candidate variants
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio 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 trio Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, default, Candidates per proband
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio 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 trio Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, default, Candidates per diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio evaluation cohort	177 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 default: ACG trio Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, default, Diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: ACG trio Dataset: Talos ACG trio evaluation cohort	90% 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 default: ACG trio Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, ACG trio, default, Diagnoses (%)
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	1,095 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: RGP full Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, default, Candidate variants
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	1.6 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: RGP full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, default, Candidates per proband
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	13.7 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: RGP full Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, default, Candidates per diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	80 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 default: RGP full Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, default, Diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP full Dataset: Talos RGP full evaluation cohort	86% 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 default: RGP full Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP full, default, Diagnoses (%)
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	1,491 candidate_variants count · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Talos default: RGP singleton Not reported Aggregation: total Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, default, Candidate variants
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	2.2 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 default: RGP singleton Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, default, Candidates per proband
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	18.4 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 default: RGP singleton Not reported Aggregation: table ratio Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, default, Candidates per diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	81 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 default: RGP singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, default, Diagnoses
Configuration: Talos default filtering, 2026 study	Protocol: Talos diagnosis recovery and workload: RGP singleton Dataset: Talos RGP singleton evaluation cohort	87% 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 default: RGP singleton Not reported Aggregation: Not reported Talos Table 1: complete evaluation cohort outcomes · Table 1, RGP singleton, default, Diagnoses (%)

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

Use this model

How it works, versions and access

Related profile: Talos. This page retains the exact record and its evaluation context.

Strengths, limitations and unresolved questions

Evidence

Source checking verifies the cited claim or transcription. It does not establish independent reproduction.

Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

1 evidence row matching the loaded filters

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-default Source artifact SHA-256: `629b9578ac42717245256feca69dc9c9d5442deb7d282dd1bdc5a6c1a1efd2ec` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

All evidence (CSV)All evidence (JSONL)How to read the evidence

Sources and history

View linked audit checks and correction history

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

Download this release

Technical metadata and extraction receipts

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

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; study identifies repository only
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 default filtering, 2026 study
configuration: Talos default filtering as comparator for phenotype restriction
configuration: Talos default: ACG full
configuration: Talos default: ACG singleton
configuration: Talos default: ACG trio
configuration: Talos default: RGP full
configuration: Talos default: RGP singleton
configuration: Talos default: RGP trio

Suggest a correction