Talos programme reanalysis yield
Incremental confirmed diagnoses and workload after initial unresolved analysis. Diagnoses, individuals and cycles are distinct. Updated calls and new disease knowledge accompany the workflow; no equal-updated-input manual comparator.
Overview
Incremental confirmed diagnoses and workload after initial unresolved analysis. Diagnoses, individuals and cycles are distinct. Updated calls and new disease knowledge accompany the workflow; no equal-updated-input manual comparator.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
1 recorded evaluation, 14 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
Results are available, but no reviewed comparison panel is linked in this release.
All evaluations
1 evaluation · 14 results. Different protocols are not a single leaderboard.
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% additional_diagnostic_yield percent · higher Uncertainty: Not reported 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 first_cycle_diagnoses count · unknown Uncertainty: Not reported 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% first_cycle_share percent · higher Uncertainty: Not reported 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 improved_analysis_diagnoses count · unknown Uncertainty: Not reported 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% improved_analysis_share percent · higher Uncertainty: Not reported 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 later_cycle_diagnoses count · unknown Uncertainty: Not reported 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% later_cycle_share percent · higher Uncertainty: Not reported 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 variants per 1000 cases per cycle · unknown Uncertainty: Not reported 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 new_confirmed_diagnoses count · unknown Uncertainty: Not reported 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 new_gene_disease_diagnoses count · unknown Uncertainty: Not reported 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% new_gene_disease_share percent · higher Uncertainty: Not reported 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 new_variant_evidence_diagnoses count · unknown Uncertainty: Not reported 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% new_variant_evidence_share percent · higher Uncertainty: Not reported 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 newly_diagnosed_individuals count · unknown Uncertainty: Not reported 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 |
Source checking is not independent reproduction. Release 2026-09-30-e37e3ab1284d.
Methods and evaluation design
Procedure, tasks and evaluated configurations
Evaluation design
Benchmarks bring together tasks and protocols. A task describes the biological question; a protocol defines a particular test.
These source-backed links do not make different protocols or scores interchangeable.
Recorded evaluations
Each evaluation records what was tested and under which conditions.
Baseline coverage
Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.
0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.
No execution recipe linked to this protocol. Recipe availability does not establish a completed evaluation.
- Author-reported evaluations
- 1
Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.
Null control
Proposed control: requires review
Select a task-valid null control after reviewing inputs and metric
Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.
This is a suggested selection rule, not a validated method or a measured score.
Conventional reference
Proposed control: requires review
Select an upstream conventional reference after reviewing the full protocol
Protocol-specific applicability, permitted inputs, access, split, evaluator and execution requirements need review before implementation or execution.
This is a suggested selection rule, not a validated method or a measured score.
Protocol coverage CSV · Model evaluation matrix · Source table · Release and checksums
Coverage is derived from release 2026-09-30-e37e3ab1284d. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.
Run instructions
No runnable recipe has been reviewed for this protocol. Dataset access, model requirements, licences and compute requirements must be checked against its sources before execution.
Strengths, limitations and unresolved questions
Applicable tests and references
Applicability is distinct from a completed evaluation.
- Historical unresolved cohort as programme baseline · source_supported
- Equal-input refreshed manual reanalysis control (proposed) · proposed
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.
2 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Relationship: part of uc-clinical-20260930-benchmark-talos-study Individual claims | Automated reanalysis of genomic data for rare disease diagnostics at scale Table1; Results comparison with other tools and iterative reanalysis Shared locator for this statement’s cited sources; not a separate locator for each citation. 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-membership-reanalysis-programme-protocol Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Relationship: part of uc-clinical-20260930-benchmark-talos-study Individual claims | Talos Table 1: complete evaluation cohort outcomes Table1; Results comparison with other tools and iterative reanalysis Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Table 1 in final 2026 article | 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-membership-reanalysis-programme-protocol Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
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
Technical metadata and extraction receipts
Stable ID: uc-clinical-20260930-reanalysis-programme-protocol
- areas
- dna-genomes
- contexts
- clinical_research
- protocol
- Incremental confirmed diagnoses and workload after initial unresolved analysis. Diagnoses, individuals and cycles are distinct. Updated calls and new disease knowledge accompany the workflow; no equal-updated-input manual comparator.
- 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
- limitations
- No attribution of programme gain to algorithm alone.; New diagnoses are not independent of changed knowledge or additional variant calling.; Source counts differ: narrative variant subtypes sum to 269 versus reported total 268; exome denominator 3741 versus cohort 3739. These disputed subtype summaries are not extracted.
Related records
- part of: Talos 2026 evaluation and reanalysis study
- applicable to: Historical unresolved cohort as programme baseline
- applicable to: Equal-input refreshed manual reanalysis control (proposed)
- subject: Published study membership: Talos programme reanalysis yield
- protocol: Talos monthly reanalysis programme