Talos monthly iterative reanalysis with clinical confirmation
New evidence flags, monthly PanelApp/ClinVar updates and accredited-laboratory classification; all reported study settings.
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
1 evaluation · 14 results. Different protocols are not a single leaderboard.
Protocol: Talos programme reanalysis yield · Dataset: Talos 4,735 unresolved individuals
Sorted by Diagnostic yield (additional yield from reanalysis) (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 | Diagnostic yield (additional yield from reanalysis) | 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 monthly iterative reanalysis with clinical confirmationEvaluation | 5.1% | 221 | 109 | 20 | 241 | 78 | 54 | 238 | 5 | 92% | 45% | 8% | 32% | 22% |
All 14 result rows with coverage, uncertainty and sources
Filter evaluations
Applied filters: All linked evaluations
| 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 checkedMethods, coverage and sourceTalos 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 |
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Evidence
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Evidence table
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3 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
Facets: method types1 values
| Automated versus manual reanalysis in rare disease genomics 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 | conflicting claim ["automated-source-review"] · 2026-10-12 Audit detailsCorrect 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: Field: Claim: metadata-correction-tags-20261012-5c72f24b862ba8db4c4c Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
Facets: method types1 values
| Automated reanalysis of genomic data for rare disease diagnostics at scale 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 | conflicting claim ["automated-source-review"] · 2026-10-12 Audit detailsCorrect 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: Field: Claim: metadata-correction-tags-20261012-5c72f24b862ba8db4c4c Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Relationship: configuration of uc-clinical-20260930-method-talos Individual claims | Automated reanalysis of genomic data for rare disease diagnostics at scale Results and Methods; Talos workflow Version: Nature Medicine 2026 final publication, 24 June 2026 | source checked ["automated-source-review"] · 2026-09-30 Audit detailsTranscription from inspected primary source. No execution, independent replication or human scientific review. Field: Claim: uc-clinical-20260930-association-talos-monthly Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
Release 2026-11-02-a7f03c9e55a5 · Record review: source checked
1 source record and release history
- Automated reanalysis of genomic data for rare disease diagnostics at scale · Original source · Nature Medicine 2026 final publication, 24 June 2026
Technical metadata and extraction receipts
Stable ID: uc-clinical-20260930-talos-monthly
- 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
- per cycle annotation snapshots: reason: unextracted; 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