Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

PURPOSE: We investigated the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both...

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Detalles Bibliográficos
Autores principales: Himes, Patricia, Kauffman, Tia L., Muessig, Kristin R., Amendola, Laura M., Berg, Jonathan S., Dorschner, Michael O., Gilmore, Marian, Nickerson, Deborah A., Reiss, Jacob A., Richards, C. Sue, Rope, Alan F., Simpson, Dana K., Wilfond, Benjamin S., Jarvik, Gail P., Goddard, Katrina A.B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509491/
https://www.ncbi.nlm.nih.gov/pubmed/28079899
http://dx.doi.org/10.1038/gim.2016.198

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