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

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...

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Pubblicato in:Lancet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4392068/
https://ncbi.nlm.nih.gov/pubmed/25529582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S0140-6736(14)61705-0
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