Clinical utility of genomic sequencing: a measurement toolkit

Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to conventional testing strategies, routine use and reimbursement of WGS are hampered by inconsistenc...

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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Hayeems, Robin Z., Dimmock, David, Bick, David, Belmont, John W., Green, Robert C., Lanpher, Brendan, Jobanputra, Vaidehi, Mendoza, Roberto, Kulkarni, Shashi, Grove, Megan E., Taylor, Stacie L., Ashley, Euan
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Review Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7738524/
https://ncbi.nlm.nih.gov/pubmed/33319814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00164-7
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