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

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 fil...

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Hlavní autoři: Gennaro Calendo, Dara Kusic, Jozef Madzo, Neda Gharani, Laura Scheinfeldt
Médium: Článek
Jazyk:English
Vydáno: Frontiers Media S.A. 2024-03-01
Edice:Frontiers in Bioinformatics
Témata:
On-line přístup:https://www.frontiersin.org/articles/10.3389/fbinf.2024.1351620/full