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

annotation software Bioinformatics Computer applications to medicine. Medical informatics Medicine and Health Sciences R pharmacogenetic R858-859.7 Life Sciences star allele
DOI: 10.3389/fbinf.2024.1351620 Publication Date: 2024-03-12T04:39:44Z
ABSTRACT
Long-read sequencing technologies offer new opportunities to generate high-confidence phased whole-genome data for robust pharmacogenetic annotation. Here, we describe a user-friendly R package, ursaPGx, designed accept multi-sample VCF input files and output star allele annotations pharmacogenes annotated in PharmVar.
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