Dynamic star allele definitions in Pharmacogenomics: impact on diplotype calls, Phenotype predictions and statin therapy recommendations
Our findings demonstrate that outdated allele definitions can alter therapeutic recommendations, emphasizing the need for standardized approaches including mandatory PharmVar version disclosure, implementation of cross-tool validations, and incorporation of confidence metrics for star allele calling tools to ensure reliable pharmacogenomic testing.
Authors
- Simon Denil (ORCID: https://orcid.org/0000-0001-7242-9082)
- Brigitte Maes (ORCID: https://orcid.org/0009-0004-2301-3370)
- Pieter‐Jan Volders (ORCID: https://orcid.org/0000-0002-2685-2637)
- Gökhan Ertaylan (ORCID: https://orcid.org/0000-0001-5602-6435)
- Saskia M. Maas (ORCID: https://orcid.org/0000-0002-0703-5439)
Institutions
- Jessa Hospital (BE)
- Transnational University Limburg (BE)
- Flemish Institute for Technological Research (BE)
- Hasselt University (BE)
Publication Details
- Journal
- Frontiers in Pharmacology
- Published
- 2025-05-23
- DOI
- https://doi.org/10.3389/fphar.2025.1584658
- Citations
- 1
- Primary Topic
- Pharmacogenetics and Drug Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 1.56
Funders
- Universiteit Hasselt