ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole genome sequencing data
Gennaro CalendoiD, Dara KusiciD, Jozef MadžoiD, Neda Gharani, Laura ScheinfeldtiD
Abstract
Long-read sequencing technologies offer new opportunities to generate high confidence phased whole genome sequencing data for robust pharmacogenetic annotation. Here we describe a new user-friendly R package, ursaPGx, designed to accept multi-sample phased whole genome sequencing data VCF input files and output star allele annotations for pharmacogenes annotated in PharmVar.
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