Gennaro Calendo, Dara Kusic, Jozef Madzo, Neda Gharani, Laura Scheinfeldt
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引用次数: 0
摘要
长线程测序技术为生成高置信度的分阶段全基因组测序数据以进行可靠的药物基因注释提供了新的机遇。在此，我们介绍了一个新的用户友好型 R 软件包 ursaPGx，它可接受多样本分阶段全基因组测序数据 VCF 输入文件，并为 PharmVar 中注释的药物基因输出星等位基因注释。
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 files and output star allele annotations for pharmacogenes annotated in PharmVar.
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