Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

David NgCeline S HongLarry N Singh Jennifer J Johnston May Christine V MalicdanLeslie G Biesecker

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

Exomes outperformed the current chip-based assay in detecting more important pharmacogenetic variant positions and CYP2D6 CNVs for preemptive pharmacogenetic screening. Tools should be developed to derive pharmacogenetic variants from exomes.Genet Med 19 3, 357-361.

Keyphrases

high throughput
single cell
copy number