Evaluation

Talos reanalysis of 219 unresolved genomes

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Evaluation results

1 evaluation · 6 results. Different protocols are not a single leaderboard.

Protocol: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026) · Dataset: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)

Sorted by Candidates per case (average variants returned per case, singleton and trio cases) (lower 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	Candidates per case (average variants returned per case, singleton and trio cases)	Count (cases with a new P/LP finding)	Count (cohort cases with a reported P/LP finding after reanalysis (158 before))	Count (cohort cases without a prioritised finding after reanalysis (170 before))	Count (of the two cases newly classified as VUS by manual reanalysis, cases also prioritised)	Count (cohort cases with VUS findings after reanalysis (49 before))
Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)Evaluation	three	three	161	167	one	49

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Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)	Protocol: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026) Dataset: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)	three Candidates per case (average variants returned per case, singleton and trio cases) variants-per-proband · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Talos reanalysis of 219 unresolved genomes reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Reanalysis Diagnostic Yield: Automated Reanalysis P1, 'On average, Talos returned three variants per case'
Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)	Protocol: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026) Dataset: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)	three Count (cases with a new P/LP finding) count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Talos reanalysis of 219 unresolved genomes reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Reanalysis Diagnostic Yield: Automated Reanalysis P1, 'also identified the three new P/LP cases'
Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)	Protocol: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026) Dataset: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)	one Count (of the two cases newly classified as VUS by manual reanalysis, cases also prioritised) count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Talos reanalysis of 219 unresolved genomes reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Abstract P3, 'only identified one of the two new VUS findings'
Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)	Protocol: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026) Dataset: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)	167 Count (cohort cases without a prioritised finding after reanalysis (170 before)) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Talos reanalysis of 219 unresolved genomes reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Reanalysis Diagnostic Yield: Automated Reanalysis P1, 'decreased from 170 to 167'
Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)	Protocol: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026) Dataset: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)	161 Count (cohort cases with a reported P/LP finding after reanalysis (158 before)) count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Talos reanalysis of 219 unresolved genomes reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Reanalysis Diagnostic Yield: Automated Reanalysis P1, 'increased the number of cases with a P/LP finding from 158 to 161'
Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)	Protocol: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026) Dataset: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)	49 Count (cohort cases with VUS findings after reanalysis (49 before)) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Independent external evaluation · Source checked Methods, coverage and source Talos reanalysis of 219 unresolved genomes reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Reanalysis Diagnostic Yield: Automated Reanalysis P1, 'The number of cases based on results with VUS findings remained at 49'

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Evaluation procedure

Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026)

Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)
Protocol: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026)
Dataset: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)

origin: Independent external evaluation
configuration: Primary source as retrieved 2026-10-10
dataset version: UKSH cohort as published
split: No split
population: 219 cases without a prior P/LP finding, counted within the 377-case cohort
metric implementation: Case-level counts by the authors
aggregation: Cohort totals
budget: Not reported
inputs: Archived DRAGEN v3.7.5 VCFs; pedigree where available; optional HPO terms
adaptation: No manual curation
protocol id: reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis

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Split: No split
Adaptation: No manual curation
Scoring implementation: Case-level counts by the authors

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19 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-cbb3da59bc08
Property and statement	Original source and location	Review and provenance
Comparison: adaptation No manual curation Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.adaptation` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Comparison: aggregation Cohort totals Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.aggregation` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Comparison: budget Not reported Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	missing or unspecified No individual claim review recorded independent paper Audit details Field: `attributes.comparison.budget` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Comparison: dataset version UKSH cohort as published Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.dataset_version` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Comparison: inputs Archived DRAGEN v3.7.5 VCFs; pedigree where available; optional HPO terms Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.inputs` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Comparison: metric implementation Case-level counts by the authors Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.metric_implementation` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Comparison: population 219 cases without a prior P/LP finding, counted within the 377-case cohort Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.population` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Comparison: protocol id reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.protocol_id` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Comparison: split No split Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.comparison.split` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Limitations 1 values No author of Talos (Welland et al., ref. 13) is an author of this study; the authors adapted the Talos ingestion step to accept DRAGEN-annotated VCFs (Methods 'Automated Reanalysis Using Talos' P3). Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	not individually reviewed No individual claim review recorded independent paper Audit details Field: `attributes.limitations` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact

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Sources and history

Release 2026-10-10-cbb3da59bc08 · Record review: source checked

1 source record and release history

Automated versus manual reanalysis in rare disease genomics · Original source · medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML

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Technical metadata and extraction receipts

Stable ID: reanalysis-kaschta-20261010-eval-talos-219-reanalysis

areas: dna-genomes
contexts: clinical_research
origin: independent_paper
protocol: reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis
version: Primary source as retrieved 2026-10-10
comparison: dataset version: UKSH cohort as published; split: No split; population: 219 cases without a prior P/LP finding, counted within the 377-case cohort; metric implementation: Case-level counts by the authors; aggregation: Cohort totals; budget: Not reported; inputs: Archived DRAGEN v3.7.5 VCFs; pedigree where available; optional HPO terms; adaptation: No manual curation; protocol id: reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis
source locator: Results 'Reanalysis Diagnostic Yield: Automated Reanalysis' P1
limitations: No author of Talos (Welland et al., ref. 13) is an author of this study; the authors adapted the Talos ingestion step to accept DRAGEN-annotated VCFs (Methods 'Automated Reanalysis Using Talos' P3).

Related records

system: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)
assessment: Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026)
data: UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)
evaluation: talos-candidates-per-case candidates-per-case
evaluation: talos-new-plp-cases count
evaluation: talos-new-vus-cases-recovered count
evaluation: talos-no-finding-cases-after count
evaluation: talos-plp-cases-after count
evaluation: talos-vus-cases-after count

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