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Full-Text Articles in Bioinformatics
Ursapgx: A New R Package To Annotate Pharmacogenetic Star Alleles Using Phased Whole-Genome Sequencing Data., Gennaro Calendo, Dara Kusic, Josef Madzo, Neda Gharani, Laua Scheinfeldt
Ursapgx: A New R Package To Annotate Pharmacogenetic Star Alleles Using Phased Whole-Genome Sequencing Data., Gennaro Calendo, Dara Kusic, Josef Madzo, Neda Gharani, Laua Scheinfeldt
Cooper Medical School of Rowan University Faculty Scholarship
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.