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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-03-01
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| Series: | Frontiers in Bioinformatics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fbinf.2024.1351620/full |
| _version_ | 1827320462321909760 |
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| author | Gennaro Calendo Dara Kusic Jozef Madzo Jozef Madzo Neda Gharani Neda Gharani Laura Scheinfeldt Laura Scheinfeldt |
| author_facet | Gennaro Calendo Dara Kusic Jozef Madzo Jozef Madzo Neda Gharani Neda Gharani Laura Scheinfeldt Laura Scheinfeldt |
| author_sort | Gennaro Calendo |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-25T00:46:45Z |
| format | Article |
| id | doaj.art-bf6edf7f12c64cc1b7a51a3d15be9ddb |
| institution | Directory Open Access Journal |
| issn | 2673-7647 |
| language | English |
| last_indexed | 2024-04-25T00:46:45Z |
| publishDate | 2024-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Bioinformatics |
| spelling | doaj.art-bf6edf7f12c64cc1b7a51a3d15be9ddb2024-03-12T04:39:28ZengFrontiers Media S.A.Frontiers in Bioinformatics2673-76472024-03-01410.3389/fbinf.2024.13516201351620ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing dataGennaro Calendo0Dara Kusic1Jozef Madzo2Jozef Madzo3Neda Gharani4Neda Gharani5Laura Scheinfeldt6Laura Scheinfeldt7Coriell Institute for Medical Research, Camden, NJ, United StatesCoriell Institute for Medical Research, Camden, NJ, United StatesCoriell Institute for Medical Research, Camden, NJ, United StatesCooper Medical School of Rowan University, Camden, NJ, United StatesCoriell Institute for Medical Research, Camden, NJ, United StatesGharani Consulting Limited, London, United KingdomCoriell Institute for Medical Research, Camden, NJ, United StatesCooper Medical School of Rowan University, Camden, NJ, United StatesLong-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.https://www.frontiersin.org/articles/10.3389/fbinf.2024.1351620/fullRpharmacogeneticstar allelesoftwareannotation |
| spellingShingle | Gennaro Calendo Dara Kusic Jozef Madzo Jozef Madzo Neda Gharani Neda Gharani Laura Scheinfeldt Laura Scheinfeldt ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data Frontiers in Bioinformatics R pharmacogenetic star allele software annotation |
| title | ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data |
| title_full | ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data |
| title_fullStr | ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data |
| title_full_unstemmed | ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data |
| title_short | ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole-genome sequencing data |
| title_sort | ursapgx a new r package to annotate pharmacogenetic star alleles using phased whole genome sequencing data |
| topic | R pharmacogenetic star allele software annotation |
| url | https://www.frontiersin.org/articles/10.3389/fbinf.2024.1351620/full |
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