Protocol

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.

1 evaluation · 14 results

Overview

An explanatory profile has not yet been reviewed for this record.

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.

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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.

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

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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 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 checked Methods, coverage and source Talos 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 2026-11-02-a7f03c9e55a5.

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.

Benchmarks

Talos 2026 evaluation and reanalysis study

These source-backed links do not make different protocols or scores interchangeable.

Recorded evaluations

Each evaluation records what was tested and under which conditions.

Talos monthly reanalysis programme

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

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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

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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 (gzip) · Model evaluation matrix (gzip) · Source table (gzip) · Release and checksums (gzip)

Coverage is derived from release 2026-11-02-a7f03c9e55a5. 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.

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

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Evidence table

Inspect claims, sources and review details

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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

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
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 Original source ↗ 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 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:part_of:uc-clinical-20260930-benchmark-talos-study` Claim: uc-clinical-20260930-membership-reanalysis-programme-protocol Source artifact SHA-256: `629b9578ac42717245256feca69dc9c9d5442deb7d282dd1bdc5a6c1a1efd2ec` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact
Relationship: part of uc-clinical-20260930-benchmark-talos-study Individual claims	Talos Table 1: complete evaluation cohort outcomes Original source ↗ 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 Retrieved: 2026-09-30T21:25:04Z	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:part_of:uc-clinical-20260930-benchmark-talos-study` Claim: uc-clinical-20260930-membership-reanalysis-programme-protocol Source artifact SHA-256: `cb86e1a542f458271efdf67464b12faf246ee2f78419e565afe8b87158e77e5b` Hash scope: Hash scope not separately documented; inspect source record Inspected artifact

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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

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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; 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
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
assessment: Talos monthly reanalysis programme
assessed by: Reanalyse unresolved rare-disease cases

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