Comprehensive Pharmacogenomic Profiling

All samples were genotyped for 67 positions (Table 1) using iPLEX Pro chemistry on the MassARRAY® Analyzer 4 System (Agena Biosciences, San Diego, CA, USA). Twenty-nine SNP and indel variants as well as copy number status of the CYP2D6 gene were analyzed using the Agena iPLEX® ADME CYP2D6 Panel v1.0, which is a 3-well assay combining genotyping for SNP and indel variants as well as five assays to determine genomic copy number. This genotyping platform and assay have been previously shown to accurately genotype pharmacogenetic loci in Coriell reference samples.^{32 (link)}CYP2D6 diplotypes and CNV calling for MassArray data were determined using the Agena PGx Report 2.0 Reporter plugin for the Typer Analyzer software (Agena Bioscience). CYP2D6 copy number was estimated from the five copy number assays that are integrated in the CYP2D6 genotyping panel, which is calculated from informative polymorphisms between CYP2D6 and CYP2D7. Variants in the remaining 18 genes in this study were also typed on the MassARRAY® Analyzer 4 System with custom-designed primers using a combination of Agena’s Assay Design Suite (ADS) and Primer3 (ref 33 (link)).