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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Review Article
Online adgang: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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