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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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group UK 2020
Ábhair:
Rochtain Ar Líne: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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