Count (of the two cases newly classified as VUS by manual reanalysis, cases also prioritised) of Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026) on 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)
Methods
- Tested 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)
- Procedure
- Manual versus Talos reanalysis of 219 unresolved genomes after a mean 660 days (Kaschta et al. 2026)
- Evaluation
- Talos reanalysis of 219 unresolved genomes
- Coverage
- Not reported scored / Not reported eligible
- Uncertainty
- Not reported by the source
- Evidence
- Independent external evaluation · source checkedAutomated versus manual reanalysis in rare disease genomics · Abstract P3, 'only identified one of the two new VUS findings'
A source-checked result verifies the numerical transcription, not every model or protocol detail. Evaluation metadata: source checked. Source checked does not mean independently reproduced.
Reproduction
- Split
- No split
- Adaptation
- No manual curation
- Scoring implementation
- Case-level counts by the authors
No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.
Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.
Evidence
Source checking verifies the cited claim or transcription. It does not establish independent reproduction.
Evidence table
Inspect claims, sources and review details
Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.
One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.
1 evidence row matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Reported result one Individual claims | Automated versus manual reanalysis in rare disease genomics Abstract P3, 'only identified one of the two new VUS findings' Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML | source checked ["source-hash-verification","independent-cell-check","ai-assisted-source-review"] · 2026-10-10 independent paper Audit detailsIndependent review 2026-10-10: phrase, paragraph and value confirmed. Field: Source artifact SHA-256: Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Extraction artifact SHA-256: |
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
Technical metadata and extraction receipts
Stable ID: reanalysis-kaschta-20261010-result-talos-new-vus-cases-recovered
- metric
- count
- metric direction
- higher
- unit
- count
- printed value
- one
- numeric value
- 1
- source locator
- Abstract P3, 'only identified one of the two new VUS findings'
- metric qualifier
- of the two cases newly classified as VUS by manual reanalysis, cases also prioritised
- missing metadata
- uncertainty: reason: unreported
- review
- method: source-hash-verification; independent-cell-check; ai-assisted-source-review; method note: Re-downloaded the JATS XML and matched its SHA-256. Numbered the paragraphs with a separate parser written for this review (direct <p> children of each section; tables and figures excluded); the extractor scripts were not imported or run. Checked that the quoted phrase occurs in the cited paragraph, that the printed value occurs in the phrase, the numeric value, and the metric, qualifier, unit, direction and evaluation against the paragraph meaning.; reviewer: claude; reviewer note: Separate Claude review agent, independent of the extractor; no human review claimed; date: 2026-10-10; artifact sha256: db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd; retrieval url: https://www.medrxiv.org/content/early/2026/05/19/2026.05.16.26352295.source.xml; note: Independent review 2026-10-10: phrase, paragraph and value confirmed.
- unit detail
- cases
- denominator
- 2
Related records
- evaluation: Talos reanalysis of 219 unresolved genomes