Article
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Lancet (London, England) - 4 Apr 2015
Wright Caroline F, Fitzgerald Tomas W, Jones Wendy D, Clayton Stephen, McRae Jeremy F, van Kogelenberg Margriet, King Daniel A, Ambridge Kirsty, Barrett Daniel M, Bayzetinova Tanya, Bevan A Paul, Bragin Eugene, Chatzimichali Eleni A, Gribble Susan, Jones Philip, Krishnappa Netravathi, Mason Laura E, Miller Ray, Morley Katherine I, Parthiban Vijaya, Prigmore Elena, Rajan Diana, Sifrim Alejandro, Swaminathan G Jawahar, Tivey Adrian R, Middleton Anna, Parker Michael, Carter Nigel P, Barrett Jeffrey C, Hurles Matthew E, FitzPatrick David R, Firth Helen V
Abstract excerpt
BACKGROUND: 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.