Result

Count (cohort cases without a reported clinically relevant finding after reanalysis (170 before)) of Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (Kaschta et al. 2026) on UKSH rare-disease genomes without a prior P/LP finding: 219 cases (Kaschta et al. 2026)

166 Count (cohort cases without a reported clinically relevant finding after reanalysis (170 before))

Methods

Tested configuration: Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (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: Manual reanalysis of 219 unresolved genomes
Coverage: Not reported scored / Not reported eligible
Uncertainty: Not reported by the source
Evidence: Author-reported evaluation · source checkedAutomated versus manual reanalysis in rare disease genomics · Results, Reanalysis Diagnostic Yield: Manual Reanalysis P3, 'decreased from 170 to 166'

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: Expert interpretation
Scoring implementation: Case-level counts by the authors

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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 166 Individual claims	Automated versus manual reanalysis in rare disease genomics Original source ↗ Results, Reanalysis Diagnostic Yield: Manual Reanalysis P3, 'decreased from 170 to 166' 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 author reported Audit details Independent review 2026-10-10: phrase, paragraph and value confirmed. 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-manual-no-finding-cases-after

metric: count
metric direction: lower
unit: count
printed value: 166
numeric value: 166
source locator: Results, Reanalysis Diagnostic Yield: Manual Reanalysis P3, 'decreased from 170 to 166'
metric qualifier: cohort cases without a reported clinically relevant finding after reanalysis (170 before)
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

Related records

evaluation: Manual reanalysis of 219 unresolved genomes

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