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.
CITATION STYLE
Calendo, G., Kusic, D., Madzo, J., Gharani, N., & Scheinfeldt, L. (2024). ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data. Frontiers in Bioinformatics, 4. https://doi.org/10.3389/fbinf.2024.1351620
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