Ontology highlight
ABSTRACT:
SUBMITTER: Chua EW
PROVIDER: S-EPMC4726781 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Chua Eng Wee EW Cree Simone L SL Ton Kim N T KN Lehnert Klaus K Shepherd Phillip P Helsby Nuala N Kennedy Martin A MA
Frontiers in pharmacology 20160126
Whole-exome sequencing (WES) has been widely used for analysis of human genetic diseases, but its value for the pharmacogenomic profiling of individuals is not well studied. Initially, we performed an in-depth evaluation of the accuracy of WES variant calling in the pharmacogenes CYP2D6 and CYP2C19 by comparison with MiSeq(®) amplicon sequencing data (n = 36). This analysis revealed that the concordance rate between WES and MiSeq(®) was high, achieving 99.60% for variants that were called withou ...[more]