eP373: Analytical validation of a computational method for pharmacogenetic genotyping from clinical exome sequencing

Germline exome sequencing (ES) commonly generated in the clinical workflow of molecular tumor boards and rare/undiagnosed disease clinics has the potential to be repurposed to support clinical pharmacogenomics (PGx). However, accurately calling PGx-relevant genotypes from exome sequencing remains challenging. In this study, we assessed the analytical validity of the computational tool, Aldy, in calling PGx-relevant genotypes from ES data for 13 major pharmacogenes.