Autoinflammatory & rare systemic diseases
Clinical impact of whole-exome sequencing: 10 years of the Great Ormond Street Hospital Autoinflammation Centre of Excellence experience
Authors' conclusion
In patients with suspected autoinflammation, WES increased diagnostic yield compared with TGP testing, while providing additional clinical value through novel gene discovery and capacity for future systematic reanalysis of unsolved cases.
Study context
- Population
- Patients evaluated for autoinflammation at the Great Ormond Street Hospital Autoinflammation Centre of Excellence
- Participants
- 210 vs 476
- Exposure
- Whole-exome sequencing (WES) vs targeted gene panel (TGP) testing
- WESn = 210
- TGPn = 476reference
- Outcome
- Diagnostic yield (molecular diagnoses)
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Molecular diagnostic yield
Observational data: associations, not effects.
Further findings
- WES enabled discovery of novel genotype-phenotype associations
Safety
Significant incidental findings, incl. variants predisposing to cancer or cardiomyopathy
- Significant incidental findings in cases
- 29/210 (13.8%)
Original publication
Clinical impact of whole-exome sequencing: 10 years of the Great Ormond Street Hospital Autoinflammation Centre of Excellence experience. Rheumatology (Oxford). Published 29 January 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →