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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Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5133159/
https://ncbi.nlm.nih.gov/pubmed/27253732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.47
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