| Autor: |
Gennaro Calendo, Dara Kusic, Jozef Madzo, Neda Gharani, Laura Scheinfeldt |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Frontiers in Bioinformatics, Vol 4 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2673-7647 |
| DOI: |
10.3389/fbinf.2024.1351620 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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