Manual diagnostic reanalysis by laboratory experts
Expert re-interpretation of a case in a diagnostic laboratory using a tertiary interpretation platform and current literature.
Results are recorded on linked configurations and versions of this method. Their settings and evaluations are kept separate below.
Results on linked records
This method has no results of its own in this release. One linked record has results. They are not assigned to the underlying method: each record keeps its own settings and evaluations, and its scores are on its own page.
- Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (Kaschta et al. 2026) Configuration · configuration · 1 evaluation · 8 results
Overview
An explanatory profile has not yet been reviewed for this record.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
Use this method
How it works, versions and access
Strengths, limitations and unresolved questions
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.
0 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|
No evidence rows match these filters. Choose another scope or clear the search.
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-method-manual-diagnostic-reanalysis
- areas
- dna-genomes
- contexts
- clinical_research
- method types
- conventional_pipeline
- reported name
- Manual reanalysis
- entity level
- method
- source locator
- Methods 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1-P3
- missing metadata
- version: reason: inapplicable; note: Family record; the workflow is on the configuration