Dataset

UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)

Index cases from routine genome sequencing at University Medical Center Schleswig-Holstein that had no P/LP finding at the initial analysis.

Evaluation results

2 evaluations · 14 results. Different protocols are not a single leaderboard.

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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'
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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Release 2026-10-10-cbb3da59bc08 · Evidence verified: Not verified

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Evidence table

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9 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
Assay PCR-free short-read genome sequencing, Illumina NovaSeq, GRCh38; mean coverage 38x Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `attributes.assay` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Patient count 219 Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `attributes.patient_count` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Population 49 cases with VUS findings and 170 cases with no findings, within a 377-case cohort (305 trios or multi-member families, 72 singletons) sequenced January 2022 to April 2023; mean interval to reanalysis 660 days (range 208 to 1,208) Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `attributes.population` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Reuse restrictions Per-patient data are in a supplement that was not retrieved; study-level aggregates only Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `attributes.reuse_restrictions` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Source location Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `attributes.source_locator` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Split No split Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `attributes.split` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Version As published (v1) Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `attributes.version` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Description Index cases from routine genome sequencing at University Medical Center Schleswig-Holstein that had no P/LP finding at the initial analysis. Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `description` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact
Name UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026) Context-only references	Automated versus manual reanalysis in rare disease genomics Original source ↗ Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2 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 Audit details Field: `name` 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-data-uksh-219-unresolved-genomes

areas: dna-genomes
contexts: clinical_research
version: As published (v1)
patient count: 219
population: 49 cases with VUS findings and 170 cases with no findings, within a 377-case cohort (305 trios or multi-member families, 72 singletons) sequenced January 2022 to April 2023; mean interval to reanalysis 660 days (range 208 to 1,208)
assay: PCR-free short-read genome sequencing, Illumina NovaSeq, GRCh38; mean coverage 38x
split: No split
reuse restrictions: Per-patient data are in a supplement that was not retrieved; study-level aggregates only
source locator: Methods 'Study Cohort and Reanalysis Design' P2-P3; Results 'Cohort' P1-P2

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