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12.2. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

CF Wright , P Campbell , RY Eberhardt , S Aitken , D Perrett , S Brent , P Danecek , EJ Gardner , VK Chundru , SJ Lindsay , K Andrews , J Hampstead , J Kaplanis , KE Samocha , A Middleton , J Foreman , RJ Hobson , MJ Parker , HC Martin , DR Fitz Patrick , ME Hurles , HV for the DDD Study Firth

Brief summary: In this large-scale, multicenter DNA sequencing study, probands (and families; n=13 449) with previously undiagnosed, severe, likely monogenic, complex developmental disorders from 24 centers in the UK and Irland were studied by whole exome sequencing and microarray analysis. Multimodal data analysis yielded a diagnosis in 41%, more likely with TRIO family analysis. Probands with a history of extreme prematurity, in utero exposure to antiepileptics and ...

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ESPE Yearbook of Paediatric Endocrinology

12.2. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

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