Ontology highlight
ABSTRACT:
SUBMITTER: Rasmussen-Torvik LJ
PROVIDER: S-EPMC5500823 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Rasmussen-Torvik Laura J LJ Almoguera Berta B Doheny Kimberly F KF Freimuth Robert R RR Gordon Adam S AS Hakonarson Hakon H Hawkins Jared B JB Husami Ammar A Ivacic Lynn C LC Kullo Iftikhar J IJ Linderman Michael D MD Manolio Teri A TA Obeng Aniwaa Owusu AO Pellegrino Renata R Prows Cynthia A CA Ritchie Marylyn D MD Smith Maureen E ME Stallings Sarah C SC Wolf Wendy A WA Zhang Kejian K Scott Stuart A SA
The Journal of molecular diagnostics : JMD 20170511 4
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 comparison of genotyping results between platforms. Concordance (percentage agreemen ...[more]