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Clinical impact of whole-exome sequencing: 10 years of the Great Ormond Street Hospital Autoinflammation Centre of Excellence experience.

Rheumatology (Oxford, England) - 4 Feb 2026

Price-Kuehne Fiona, Burleigh Alice, Omoyinmi Ebun, McCreary Dara, McLellan Kirsty, Ibrahim Sana, Hong Ying, Nazmutdinova Katia, Eleftheriou Despina, Brogan Paul

Abstract excerpt

OBJECTIVE: 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. METHODS: We retrospectively analysed 476 patients who underwent TGP testing between 2015 and 2022, and 210 patients who underwent WES between 2022 and 2025. Analysis of WES data...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41578957
DOI: 10.1093/rheumatology/keag046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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