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

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.

SUBMITTER: Calendo G 

PROVIDER: S-EPMC10963438 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature