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Clinical whole‐exome sequencing results impact medical management

BACKGROUND: Clinical diagnostic whole‐exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical utility, we surveyed healthcare providers (HCP) about changes in medical management and treatment, diagnostic testing, reproductive planning, a...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Niguidula, Nancy, Alamillo, Christina, Shahmirzadi Mowlavi, Layla, Powis, Zöe, Cohen, Julie S., Farwell Hagman, Kelly D.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305629/
https://ncbi.nlm.nih.gov/pubmed/30318729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.484
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