Abstract
Variation in the enzymatic activity of pharmacogenes is defined by star alleles (haplotypes) comprised of single‐nucleotide variants, small insertion‐deletions, and large structural variants. We recently developed Stargazer, a next‐generation sequencing‐based tool to call star alleles for the clinically important CYP2D6 gene. Here, we present the utility of extending Stargazer to call star alleles for 28 pharmacogenes using whole genome sequencing (WGS) data. We applied Stargazer to WGS data from 70 ethnically diverse samples from the Genetic Testing Reference Materials Coordination Program (GeT‐RM). These reference samples were extensively characterized by GeT‐RM using multiple pharmacogenetic testing assays. In all 28 genes, Stargazer recalled 100% of star alleles (N = 92) present in GeT‐RM's consensus genotypes (N = 1,559). Stargazer also detected star alleles not previously reported by GeT‐RM, including complex structural variants. Our results demonstrate that combining WGS data and Stargazer enables automated, accurate, and comprehensive genotyping of pharmacogenes in the human genome.
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