Article
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.
The Journal of molecular diagnostics : JMD - 1 Jul 2017
Rasmussen-Torvik Laura J, Almoguera Berta, Doheny Kimberly F, Freimuth Robert R, Gordon Adam S, Hakonarson Hakon, Hawkins Jared B, Husami Ammar, Ivacic Lynn C, Kullo Iftikhar J, Linderman Michael D, Manolio Teri A, Obeng Aniwaa Owusu, Pellegrino Renata, Prows Cynthia A, Ritchie Marylyn D, Smith Maureen E, Stallings Sarah C, Wolf Wendy A, Zhang Kejian, Scott Stuart A
Abstract excerpt
There has been extensive debate about both the necessity of orthogonal confirmation of next-generation sequencing (NGS) results in Clinical Laboratory Improvement Amendments-approved laboratories and return of research NGS results to participants enrolled in research studies. In eMERGE-PGx, subjects underwent research NGS using PGRNseq and orthogonal targeted genotyping in clinical laboratories, which prompted a...
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