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ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole genome sequencing data

Calendo, G.; Kusic, D.; Madzo, J.; Gharani, N.; Scheinfeldt, L.

2023-07-26 bioinformatics
10.1101/2023.07.24.550372 bioRxiv
Show 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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