Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate...

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Enregistré dans:
Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2017
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5427178/
https://ncbi.nlm.nih.gov/pubmed/28327571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.37
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