Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (Kaschta et al. 2026)
Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (Kaschta et al. 2026) as run in Kaschta et al. 2026.
Overview
Manual diagnostic reanalysis by laboratory experts: Expert re-interpretation of a case in a diagnostic laboratory using a tertiary interpretation platform and current literature.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
Evaluations and results
1 evaluation · 8 results. Different protocols are not a single leaderboard.
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)
Sorted by Count (cases with a new P/LP finding) (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.
| Tested configuration | Count (cases with a new P/LP finding) | Count (cases with newly reported findings (P/LP or VUS)) | Count (cohort cases with a reported P/LP finding after reanalysis (158 before)) | Count (cohort cases without a reported clinically relevant finding after reanalysis (170 before)) | Diagnostic yield (total P/LP diagnostic rate in the 377-case cohort after reanalysis) | Review time per case (mean hands-on time for full manual case reanalysis, excluding report writing and secondary-review preparation) | Count (cases newly classified as VUS findings) | Count (cohort cases with VUS findings after reanalysis (49 before)) |
|---|---|---|---|---|---|---|---|---|
| Manual reanalysis in Illumina Emedgene with DRAGEN v4.2.4 re-calling (Kaschta et al. 2026)Evaluation | three | five | 161 | 166 | 42.7% | 81 minutes | two | 50 |
All 8 result rows with coverage, uncertainty and sources
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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
Technical metadata and extraction receipts
Stable ID: reanalysis-kaschta-20261010-config-manual-emedgene-dragen-4-2-4
- areas
- dna-genomes
- contexts
- clinical_research
- method types
- conventional_pipeline
- reported name
- Manual reanalysis (Illumina Emedgene)
- foundation model eligible
- false
- version
- DRAGEN germline v4.2.4 (small variants), v4.2 (SMN copy number, STR and SV calling); Emedgene version not printed
- parameters
- Raw FASTQ re-aligned and re-called; updated annotation, allele frequencies, curated clinical information and current literature; mean time recorded per case
- source locator
- Methods 'Manual Reanalysis of Previously No-Finding and Cases with VUS Findings' P1-P3; Results 'Cohort' P2
Related records
- configuration of: Manual diagnostic reanalysis by laboratory experts
- system: Manual reanalysis of 219 unresolved genomes