Trio cases with an initial P/LP or VUS finding, used as positive controls for Talos.
2 evaluations · 8 results. Different protocols are not a single leaderboard.
Applied filters: All linked evaluations
| 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 162 trio cases (Kaschta et al. 2026) Dataset: UKSH trio benchmarking cases with known findings (Kaschta et al. 2026) | 6.2% Proportion (known P/LP variants missed: 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 in trio mode on 162 trio benchmarking cases reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Trio Cases P1, 'nine pipeline conversion errors (6.2%)' |
| 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 162 trio cases (Kaschta et al. 2026) Dataset: UKSH trio benchmarking cases with known findings (Kaschta et al. 2026) | 6.2% Proportion (known P/LP variants missed: 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 in trio mode on 162 trio benchmarking cases reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Trio Cases P1, 'nine HPO annotation gaps (6.2%)' |
| 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 162 trio cases (Kaschta et al. 2026) Dataset: UKSH trio benchmarking cases with known findings (Kaschta et al. 2026) | 7.6% Proportion (known P/LP variants not prioritised because of trio inheritance filtering) percent · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos in trio mode on 162 trio benchmarking cases reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Trio Cases P2, 'An additional 11 P/LP variants (7.6%) were not prioritized' |
| 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 162 trio cases (Kaschta et al. 2026) Dataset: UKSH trio benchmarking cases with known findings (Kaschta et al. 2026) | 2.1% Proportion (known P/LP variants missed: large copy-number variants not processed) percent · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos in trio mode on 162 trio benchmarking cases reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Trio Cases P1, 'three large copy-number variants not processed by the pipeline (2.1%)' |
| 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 162 trio cases (Kaschta et al. 2026) Dataset: UKSH trio benchmarking cases with known findings (Kaschta et al. 2026) | 2.8% Proportion (known P/LP variants missed: out-of-scope variant classes) percent · lower Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos in trio mode on 162 trio benchmarking cases reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Trio Cases P1, 'four out-of-scope variant classes (2.8%)' |
| 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 162 trio cases (Kaschta et al. 2026) Dataset: UKSH trio benchmarking cases with known findings (Kaschta et al. 2026) | 75.2% Recall (known P/LP variants prioritised, trio mode) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos in trio mode on 162 trio benchmarking cases reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Trio Cases P1, 'overall P/LP concordance of 75.2%' |
| Configuration: Talos 8.2.0, proband-only mode on trio cases (Kaschta et al. 2026) | Protocol: Talos recovery of known P/LP and VUS variants in 162 trio cases (Kaschta et al. 2026) Dataset: UKSH trio benchmarking cases with known findings (Kaschta et al. 2026) | 82.8% Recall (known P/LP variants prioritised, proband-only mode) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos in proband-only mode on 162 trio benchmarking cases reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Trio Cases P3, 'increasing concordance to 82.8%' |
| 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 162 trio cases (Kaschta et al. 2026) Dataset: UKSH trio benchmarking cases with known findings (Kaschta et al. 2026) | Six Count (known VUS prioritised, trio mode) count · unknown Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceTalos in trio mode on 162 trio benchmarking cases reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Aggregation: Not reported Automated versus manual reanalysis in rare disease genomics · Results, Benchmarking of Automated Reanalysis: Trio Cases P1, 'Six VUS variants 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 162 Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio 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 129 cases with 145 P/LP variants and 33 cases with 43 VUS. Methods 'Benchmarking of Automated Reanalysis' P1 gives 34 trio cases with VUS variants; Methods 'Study Cohort and Reanalysis Design' P2 and Results 'Trio Cases' P1 give 33, which is used here Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio 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: Trio Cases' P1 Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio 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: Trio 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: Trio 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 Trio 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: Trio 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 trio 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: Trio 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-trio-benchmark