UrsaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data.
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ABSTRACT:
SUBMITTER: Calendo G
PROVIDER: S-EPMC10963438 | biostudies-literature | 2024
REPOSITORIES: biostudies-literature
Publications
ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data.
Calendo Gennaro G Kusic Dara D Madzo Jozef J Gharani Neda N Scheinfeldt Laura L
Frontiers in bioinformatics 20240312
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. ...[more]
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