Whole-genome sequencing and the clinician: a tale of two cities

BACKGROUND: Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing. Access to genomic technology and resultant data is no longer limited to clinicians, geneticists and bioi...

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Detalles Bibliográficos
Autores principales: Foley, A Reghan, Pitceathly, Robert D S, He, Jie, Kim, Jihee, Pearson, Nathaniel M, Muntoni, Francesco, Hanna, Michael G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Neuromuscular
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145416/
https://www.ncbi.nlm.nih.gov/pubmed/24706943
http://dx.doi.org/10.1136/jnnp-2013-306264

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145416/
https://www.ncbi.nlm.nih.gov/pubmed/24706943
http://dx.doi.org/10.1136/jnnp-2013-306264

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