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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: 2016
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Online Access: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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