Evaluation

Manual reanalysis of 219 unresolved genomes

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Evaluation results

1 evaluation · 8 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 Count (cases with a new P/LP finding) (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	Count (cases with a new P/LP finding)	Count (cases with newly reported findings (P/LP or VUS))	Count (cohort cases with a reported P/LP finding after reanalysis (158 before))	Count (cohort cases without a reported clinically relevant finding after reanalysis (170 before))	Diagnostic yield (total P/LP diagnostic rate in the 377-case cohort after reanalysis)	Review time per case (mean hands-on time for full manual case reanalysis, excluding report writing and secondary-review preparation)	Count (cases newly classified as VUS findings)	Count (cohort cases with VUS findings after reanalysis (49 before))
Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (Kaschta et al. 2026)Evaluation	three	five	161	166	42.7%	81 minutes	two	50

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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)	five Count (cases with newly reported findings (P/LP or VUS)) count · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Manual 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: Manual Reanalysis P1, 'identified five cases with newly reported findings'
Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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	Author-reported evaluation · Source checked Methods, coverage and source Manual 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, 'Manual reanalysis identified three additional P/LP cases'
Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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)	two Count (cases newly classified as VUS findings) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Manual 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, 'two newly classified as VUS'
Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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)	166 Count (cohort cases without a reported clinically relevant finding after reanalysis (170 before)) count · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Manual 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: Manual Reanalysis P3, 'decreased from 170 to 166'
Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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	Author-reported evaluation · Source checked Methods, coverage and source Manual 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: Manual Reanalysis P3, 'increased the number of cases with a reported P/LP finding from 158 to 161'
Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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)	81 minutes Review time per case (mean hands-on time for full manual case reanalysis, excluding report writing and secondary-review preparation) minute · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Manual 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: Manual Reanalysis P3, 'The mean reanalysis time was 81 minutes per case'
Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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)	42.7% Diagnostic yield (total P/LP diagnostic rate in the 377-case cohort after reanalysis) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source Manual 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: Manual Reanalysis P3, 'yielding a total diagnostic rate of 42.7%'
Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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)	50 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	Author-reported evaluation · Source checked Methods, coverage and source Manual 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: Manual Reanalysis P3, 'The number of cases with VUS findings increased from 49 to 50'

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Evaluation procedure

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

Configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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: Author-reported 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: Raw reads re-called with DRAGEN v4.2.4; updated phenotype and literature
adaptation: Expert interpretation
protocol id: reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis

Metadata review: source checked. Unreported conditions prevent automatic comparisons.

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Split: No split
Adaptation: Expert interpretation
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 Expert interpretation Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Manual Reanalysis' P1-P3 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 author reported 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: Manual Reanalysis' P1-P3 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 author reported 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: Manual Reanalysis' P1-P3 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 author reported 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: Manual Reanalysis' P1-P3 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 author reported 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 Raw reads re-called with DRAGEN v4.2.4; updated phenotype and literature Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Manual Reanalysis' P1-P3 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 author reported 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: Manual Reanalysis' P1-P3 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 author reported 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: Manual Reanalysis' P1-P3 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 author reported 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: Manual Reanalysis' P1-P3 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 author reported 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: Manual Reanalysis' P1-P3 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 author reported 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 2 values The manual workflow is the authors' own diagnostic practice and is also the reference. Illumina, which makes DRAGEN and Emedgene, provided sequencing reagents, software licences and technical support and supported the study (Competing interests; Funding statement). Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results 'Reanalysis Diagnostic Yield: Manual Reanalysis' P1-P3 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 author reported 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-manual-219-reanalysis

areas: dna-genomes
contexts: clinical_research
origin: author_reported
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: Raw reads re-called with DRAGEN v4.2.4; updated phenotype and literature; adaptation: Expert interpretation; protocol id: reanalysis-kaschta-20261010-protocol-manual-vs-talos-219-reanalysis
source locator: Results 'Reanalysis Diagnostic Yield: Manual Reanalysis' P1-P3
limitations: The manual workflow is the authors' own diagnostic practice and is also the reference.; Illumina, which makes DRAGEN and Emedgene, provided sequencing reagents, software licences and technical support and supported the study (Competing interests; Funding statement).

Related records

system: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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: manual-cases-with-new-findings count
evaluation: manual-new-plp-cases count
evaluation: manual-new-vus-cases count
evaluation: manual-no-finding-cases-after count
evaluation: manual-plp-cases-after count
evaluation: manual-review-time review-time-per-case
evaluation: manual-total-diagnostic-yield diagnostic-yield
evaluation: manual-vus-cases-after count

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