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

Gennaro CalendoDara KusicJozef MadzoNeda GharaniLaura Scheinfeldt
Published in: Frontiers in bioinformatics (2024)
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.
Keyphrases
  • electronic health record
  • big data
  • single cell
  • data analysis