A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

PURPOSE: Genome and exome sequencing can identify variants unrelated to the primary goal of sequencing. Detecting pathogenic variants associated with an increased risk of a medical disorder enables clinical interventions to improve future health outcomes in patients and their at-risk relatives. The...

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Detalles Bibliográficos
Autores principales: Hunter, Jessica Ezzell, Irving, Stephanie A., Biesecker, Leslie G., Buchanan, Adam, Jensen, Brian, Lee, Kristy, Martin, Christa Lese, Milko, Laura, Muessig, Kristin, Niehaus, Annie D., O'Daniel, Julianne, Piper, Margaret A., Ramos, Erin M., Schully, Sheri D., Scott, Alan F., Slavotinek, Anne, Sobreira, Nara, Strande, Natasha, Weaver, Meredith, Webber, Elizabeth M., Williams, Marc S., Berg, Jonathan S., Evans, James P., Goddard, Katrina A.B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5085884/
https://www.ncbi.nlm.nih.gov/pubmed/27124788
http://dx.doi.org/10.1038/gim.2016.40

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