AUTHOR=Calendo Gennaro , Kusic Dara , Madzo Jozef , Gharani Neda , Scheinfeldt Laura 

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

JOURNAL=Frontiers in Bioinformatics

VOLUME=4

YEAR=2024

URL=https://www.frontiersin.org/journals/bioinformatics/articles/10.3389/fbinf.2024.1351620

DOI=10.3389/fbinf.2024.1351620

ISSN=2673-7647

ABSTRACT=<p>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.</p>