Published comparison; transcribed, not reproduced.
1 evaluation · 7 results. Different protocols are not a single leaderboard.
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)
Sorted by Proportion (known P/LP variants missed: HPO annotation gaps) (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 | Proportion (known P/LP variants missed: HPO annotation gaps) | Proportion (known P/LP variants missed: large copy-number variants not processed) | Proportion (known P/LP variants missed: out-of-scope variant classes) | Proportion (known P/LP variants missed: pipeline conversion errors) | Proportion (known P/LP variants not prioritised because of trio inheritance filtering) | Recall (known P/LP variants prioritised, trio mode) | Count (known VUS prioritised, trio mode) |
|---|---|---|---|---|---|---|---|
| Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026)Evaluation | 6.2% | 2.1% | 2.8% | 6.2% | 7.6% | 75.2% | Six |
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 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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Talos recovery of known P/LP and VUS variants in 162 trio cases (Kaschta et al. 2026)
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18 evidence rows matching the loaded filters
| 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 Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Comparison: aggregation Pooled over variants Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Comparison: budget Not reported Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | missing or unspecified No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Comparison: dataset version UKSH cohort as published Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Comparison: inputs Archived DRAGEN v3.7.5 VCFs with parental genotypes Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Comparison: metric implementation Per-variant tracking against the initial report Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Comparison: population 145 P/LP and 43 VUS variants in 162 trio cases Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Comparison: protocol id reanalysis-kaschta-20261010-protocol-talos-trio-benchmark Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Comparison: split No split Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. |
| Origin independent_paper Context-only references | Automated versus manual reanalysis in rare disease genomics Results 'Benchmarking of Automated Reanalysis: Trio Cases' P1-P2 Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | not individually reviewed No individual claim review recorded independent paper 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-eval-talos-trio-benchmark