Link to bioRxiv paper:
http://biorxiv.org/cgi/content/short/2023.07.24.550372v1?rss=1
Authors: Calendo, G., Kusic, D., Madzo, J., Gharani, N., Scheinfeldt, L.
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.
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