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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509491/
https://ncbi.nlm.nih.gov/pubmed/28079899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.198
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