Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.

ABSTRACT: The nomenclature of star alleles has been widely used in pharmacogenomics to enhance treatment outcomes, predict drug response variability, and reduce adverse reactions. However, the discovery of numerous rare functional variants through genome sequencing introduces complexities into the star-allele system. This study aimed to assess the nature and impact of the rapid discovery of numerous rare functional variants in the traditional haplotype-based star-allele system. We developed a new method to construct haplogroups, representing a common ancestry structure, by iteratively excluding rare and functional variants of the 25 representative pharmacogenes using the 2504 genomes from the 1000 Genomes Project. In total, 192 haplogroups and 288 star alleles were identified, with an average of 7.6

SUBMITTER: Ahn SH 

PROVIDER: S-EPMC11050392 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature