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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

2014; Elsevier BV; Volume: 385; Issue: 9975 Linguagem: Inglês

10.1016/s0140-6736(14)61705-0

1474-547X

Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones, Stephen Clayton, Jeremy F. McRae, Margriet van Kogelenberg, Daniel A. King, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, A. Paul Bevan, Eugene Bragin, Eleni Anthippi Chatzimichali, Susan Gribble, Philip Jones, Netravathi Krishnappa, Laura E. Mason, Ray Miller, Katherine I. Morley, Vijaya Parthiban, Elena Prigmore, Diana Rajan, Alejandro Sifrim, G. Jawahar Swaminathan, Adrian R. Tivey, Anna Middleton, Michael Parker, Nigel P. Carter, Jeffrey C. Barrett, Matthew E. Hurles, David Fitzpatrick, Helen V. Firth,

Cancer Genomics and Diagnostics

Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the diagnosis of rare diseases. The question of whether and how some categories of genomic findings should be shared with individual research participants is currently a topic of international debate, and development of robust analytical workflows to identify and communicate clinically relevant variants is paramount.