Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Disease Program experience

PURPOSE: Using SNP chip and exome sequence data from individuals participating in the NIH Undiagnosed Diseases Program (UDP), we evaluated the number and therapeutic informativeness of incidental pharmacogenetic variants. METHODS: Pharmacogenomics Knowledgebase (PharmGKB) annotated sequence variants...

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Detalles Bibliográficos
Autores principales: Lee, Elizabeth M.J., Xu, Karen, Mosbrook, Emma, Links, Amanda, Guzman, Jessica, Adams, David R., Flynn, Elise, Valkanas, Elise, Toro, Camillo, Tifft, Cynthia J., Boerkoel, Cornelius F., Gahl, William A., Sincan, Murat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133159/
https://www.ncbi.nlm.nih.gov/pubmed/27253732
http://dx.doi.org/10.1038/gim.2016.47

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133159/
https://www.ncbi.nlm.nih.gov/pubmed/27253732
http://dx.doi.org/10.1038/gim.2016.47

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