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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Mol Genet Genomic Med
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: John Wiley and Sons Inc. 2018
الموضوعات:
Original Articles
الوصول للمادة أونلاين: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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