Clinical utility of genomic sequencing: a measurement toolkit

Abstract 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 inc...

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Autores principales: Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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R
Acceso en línea:https://doaj.org/article/1ed1964adc59405fabebc0e2ef72b8b1
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