ArticleScientific reports2024
Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.
Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- The Role of the Pediatric Pharmacist in Precision Medicine and Clinical Pharmacogenomics for Children.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG · 2026Article
- PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.Clinical pharmacology and therapeutics · 2026Review
- Gene-centered representation of coding and regulatory variation enables outcome prediction.bioRxiv : the preprint server for biology · 2026Article
- Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6.NPJ genomic medicine · 2026Article
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.Molecular genetics & genomic medicine · 2026Article
- The role of pharmacogenomics and opioid prescribing for infants with surgical congenital heart disease.Pharmacogenetics and genomics · 2025Article
- Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.Scientific reports · 2025Article
- Review
- New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table.The Journal of molecular diagnostics : JMD · 2025Article
- Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives.Frontiers in genetics · 2025Review
- Comprehensive pharmacogenomics profiling of the Serbian population.Frontiers in pharmacology · 2025Article
- Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.Frontiers in genetics · 2025Article
- Article
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Authors and funding
3 authors.
Funding
Abstract
While significant strides have been made in understanding pharmacogenetics (PGx) and gene-drug interactions, there remains limited characterization of population-level PGx variation. This study aims to comprehensively profile global star alleles (haplotype patterns) and phenotype frequencies in 58 pharmacogenes associated with drug absorption, distribution, metabolism, and excretion. PyPGx, a star-allele calling tool, was employed to identify star alleles within high-coverage whole genome sequencing (WGS) data from the 1000 Genomes Project (N = 2504; 26 global populations). This process involved detecting structural variants (SVs), such as gene deletions, duplications, hybrids, as well as single nucleotide variants and insertion-deletion variants. The majority of our PyPGx calls for star alleles and phenotype frequencies aligned with the Pharmacogenomics Knowledge Base, although notable population-specific frequencies differed at least twofold. Validation efforts confirmed known SVs while uncovering several novel SVs currently undefined as star alleles. Additionally, we identified 210 small nucleotide variants associated with severe functional consequences that are not defined as star alleles. The study serves as a valuable resource, providing updated population-level star allele and phenotype frequencies while incorporating SVs. It also highlights the burgeoning potential of cost-effective WGS for PGx genotyping, offering invaluable insights to improve tailored drug therapies across diverse populations.
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