The gene has been widely studied to characterize variants and/or star alleles, which account for a significant portion of variability in drug responses observed within and between populations. However, African populations remain under-represented in these studies. The increasing availability of high coverage genomes from African populations has provided the opportunity to fill this knowledge gap. In this study, we characterized computationally predicted novel star alleles in 30 African subjects for whom DNA samples were available from the Coriell Institute. genotyping and resequencing was performed using a variety of commercially available and laboratory-developed tests in a collaborative effort involving three laboratories. Fourteen novel alleles and multiple novel suballeles were identified. This work adds to the growing catalogue of validated African ancestry allelic variation in pharmacogenomic databases, thus laying the foundation for future functional studies and improving the accuracy of genotyping, phenotype prediction, and the refinement of clinical pharmacogenomic implementation guidelines in African and global settings.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605556 | PMC |
http://dx.doi.org/10.3390/jpm12101575 | DOI Listing |
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