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The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results

OBJECTIVES: To identify clinically actionable genetic variants from targeted sequencing of 68 disease-related genes, estimate their penetrance, and assess the impact of disclosing results to participants and providers. PATIENTS AND METHODS: The Return of Actionable Variants Empirical (RAVE) Study in...

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Detalles Bibliográficos
Autores principales: Kullo, Iftikhar J., Olson, Janet, Fan, Xiao, Jose, Merin, Safarova, Maya, Breitkopf, Carmen Radecki, Winkler, Erin, Kochan, David C., Snipes, Sara, Pacyna, Joel E., Carney, Meaghan, Chute, Christopher G., Gupta, Jyoti, Jose, Sheethal, Venner, Eric, Murugan, Mullai, Jiang, Yunyun, Zordok, Magdi, Farwati, Medhat, Philogene, Maraisha, Smith, Erica, Shaibi, Gabriel Q., Caraballo, Pedro, Freimuth, Robert, Lindor, Noralane M., Sharp, Richard, Thibodeau, Stephen N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6652203/
https://www.ncbi.nlm.nih.gov/pubmed/30392543
http://dx.doi.org/10.1016/j.mayocp.2018.06.026