Singleton cases with an initial P/LP or VUS finding, used as positive controls for Talos.
1 evaluation · 4 results. Different protocols are not a single leaderboard.
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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: Talos recovery of known P/LP and VUS variants in 45 singleton cases (Kaschta et al. 2026) Dataset: UKSH singleton benchmarking cases with known findings (Kaschta et al. 2026) | 8.6% Proportion (known P/LP variants missed because of pipeline conversion errors) percent · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos on 45 singleton benchmarking cases reanalysis-kaschta-20261010-protocol-talos-singleton-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Singleton Cases P3, 'pipeline conversion errors (8.6%)' |
| Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026) | Protocol: Talos recovery of known P/LP and VUS variants in 45 singleton cases (Kaschta et al. 2026) Dataset: UKSH singleton benchmarking cases with known findings (Kaschta et al. 2026) | 11.4% Proportion (known P/LP variants missed because of HPO annotation gaps) percent · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos on 45 singleton benchmarking cases reanalysis-kaschta-20261010-protocol-talos-singleton-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Singleton Cases P3, 'HPO annotation gaps (11.4%)' |
| Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026) | Protocol: Talos recovery of known P/LP and VUS variants in 45 singleton cases (Kaschta et al. 2026) Dataset: UKSH singleton benchmarking cases with known findings (Kaschta et al. 2026) | 80% Recall (known P/LP variants prioritised) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos on 45 singleton benchmarking cases reanalysis-kaschta-20261010-protocol-talos-singleton-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Singleton Cases P2, 'Talos prioritized 28 out of 35 P/LP variants (80.0% concordance)' |
| Configuration: Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026) | Protocol: Talos recovery of known P/LP and VUS variants in 45 singleton cases (Kaschta et al. 2026) Dataset: UKSH singleton benchmarking cases with known findings (Kaschta et al. 2026) | two Count (known VUS prioritised) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos on 45 singleton benchmarking cases reanalysis-kaschta-20261010-protocol-talos-singleton-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Singleton Cases P2, 'only two out of 21 VUS were captured' |
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7 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Patient count 45 Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Singleton Cases' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Population 29 cases with 35 P/LP variants and 16 cases with 21 VUS Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Singleton Cases' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Source location Results 'Benchmarking of Automated Reanalysis: Singleton Cases' P1 Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Singleton Cases' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Split No split Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Singleton Cases' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Version As published (v1) Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Singleton Cases' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Description Singleton cases with an initial P/LP or VUS finding, used as positive controls for Talos. Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Singleton Cases' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Name UKSH singleton benchmarking cases with known findings (Kaschta et al. 2026) Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Singleton Cases' P1 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
Release 2026-10-10-cbb3da59bc08 · Record review: source checked
Stable ID: reanalysis-kaschta-20261010-data-uksh-singleton-benchmark