Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

BACKGROUND: Clinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of autosomal recessive and X‐linked carrier results as a...

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Publicado en:Mol Genet Genomic Med
Autores principales: Porter, Kathryn M., Kauffman, Tia L., Koenig, Barbara A., Lewis, Katie L., Rehm, Heidi L., Richards, Carolyn Sue, Strande, Natasha T., Tabor, Holly K., Wolf, Susan M., Yang, Yaping, Amendola, Laura M., Azzariti, Danielle R., Berg, Jonathan S., Bergstrom, Katie, Biesecker, Leslie G., Biswas, Sawona, Bowling, Kevin M., Chung, Wendy K., Clayton, Ellen W., Conlin, Laura K., Cooper, Gregory M., Dulik, Matthew C., Garraway, Levi A., Ghazani, Arezou A., Green, Robert C., Hiatt, Susan M., Jamal, Seema M., Jarvik, Gail P., Goddard, Katrina A. B., Wilfond, Benjamin S.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2018
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305639/
https://ncbi.nlm.nih.gov/pubmed/30133189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.453
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