Clinical impact of whole-exome sequencing: 10 years of the Great Ormond Street Hospital Autoinflammation Centre of Excellence experience.
To evaluate the diagnostic yield of whole-exome sequencing (WES) vs targeted gene panel (TGP) testing in patients evaluated for autoinflammation at the Great Ormond Street Hospital Autoinflammation Centre of Excellence. We retrospectively analysed 476 patients who underwent TGP…