Result

Proportion (known P/LP variants missed because of pipeline conversion errors) of Talos 8.2.0 on archived DRAGEN v3.7.5 VCFs, pedigree where available (Kaschta et al. 2026) on UKSH singleton benchmarking cases with known findings (Kaschta et al. 2026)

8.6% Proportion (known P/LP variants missed because of pipeline conversion errors)

Methods

Tested 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)
Procedure: Talos recovery of known P/LP and VUS variants in 45 singleton cases (Kaschta et al. 2026)
Evaluation: Talos on 45 singleton benchmarking cases
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 · Results, Benchmarking of Automated Reanalysis: Singleton Cases P3, 'pipeline conversion errors (8.6%)'

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: Per-variant tracking against the initial report

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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

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Evidence table

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1 evidence row matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-cbb3da59bc08
Property and statement	Original source and location	Review and provenance
Reported result 8.6% Individual claims	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results, Benchmarking of Automated Reanalysis: Singleton Cases P3, 'pipeline conversion errors (8.6%)' Version: medRxiv 2026.05.16.26352295 v1, posted 2026-05-19; JATS source XML Retrieved: 2026-10-10T06:04:35Z	source checked ["source-hash-verification","independent-cell-check","ai-assisted-source-review"] · 2026-10-10 independent paper Audit details Independent review 2026-10-10: phrase, paragraph and value confirmed. 3 of 35 is 8.6%. The Fig. 2B legend prints 9.6%; with 11.4% and 80.0% the text values sum to 100% and the legend values to 101%, so the legend figure is the inconsistent one. Field: `attributes.printed_value` Source artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Hash scope: SHA-256 of the JATS source XML as returned on 2026-10-10. Inspected artifact Extraction artifact SHA-256: `db4ed16a501eda14ba114f8693f39596b03d7afaeafa8adafa41d84d9a61f6bd` Extraction artifact

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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

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Technical metadata and extraction receipts

Stable ID: reanalysis-kaschta-20261010-result-singleton-miss-conversion

metric: proportion
metric direction: lower
unit: percent
printed value: 8.6%
numeric value: 8.6
source locator: Results, Benchmarking of Automated Reanalysis: Singleton Cases P3, 'pipeline conversion errors (8.6%)'
metric qualifier: known P/LP variants missed because of pipeline conversion errors
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. 3 of 35 is 8.6%. The Fig. 2B legend prints 9.6%; with 11.4% and 80.0% the text values sum to 100% and the legend values to 101%, so the legend figure is the inconsistent one.

Related records

evaluation: Talos on 45 singleton benchmarking cases

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