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Talos 8.2.0, proband-only mode on trio cases (Kaschta et al. 2026)

Talos 8.2.0, proband-only mode on trio cases: As the archived-VCF configuration, run without parental genotypes.

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Tested configuration	Protocol and dataset	Finding	Evidence and details
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 checked Methods, coverage and source Talos 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%'

Source checking is not independent reproduction. Release 2026-11-02-a7f03c9e55a5.

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Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

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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-config-talos-8-2-0-proband-only

areas: dna-genomes
contexts: clinical_research
method types: conventional_pipeline
reported name: Talos (proband-only mode)
foundation model eligible: false
version: 8.2.0
parameters: As the archived-VCF configuration, run without parental genotypes
source locator: Results 'Benchmarking of Automated Reanalysis: Trio Cases' P3
provenance note: Talos 8.2.0, proband-only mode on trio cases (Kaschta et al. 2026) as run in Kaschta et al. 2026.

Related records

configuration of: Talos
system: Talos in proband-only mode on 162 trio benchmarking cases

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