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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

BACKGROUND: The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines from the American College of Medical Genetics and Genomics (ACMG) have encouraged reporting pathogenic variants that confer personal risk for actionab...

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Detalles Bibliográficos
Autores principales: Haverfield, Eden V., Esplin, Edward D., Aguilar, Sienna J., Hatchell, Kathryn E., Ormond, Kelly E., Hanson-Kahn, Andrea, Atwal, Paldeep S., Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W.-M., Tucker, Steven, Bleyl, Steven B., Hulick, Peter J., Gordon, Ora K., Velsher, Lea, Gu, Jessica Y. J., Weissman, Scott M., Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A., Green, Robert C., Aradhya, Swaroop, Nussbaum, Robert L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371767/
https://www.ncbi.nlm.nih.gov/pubmed/34404389
http://dx.doi.org/10.1186/s12916-021-01999-2