ArticleAmerican journal of human genetics2023
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank.
Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
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- Analytical Validation of an Annotation Tool for WGS-Based Pharmacogenomics: Preparing for Clinical Implementation in Pediatric Oncology.Clinical and translational science · 2026Article
- Clinical genetic variation across Hispanic populations in the Mexican Biobank.Nature medicine · 2026Article
- Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.Molecular genetics & genomic medicine · 2026Article
- Japanese genomes for pharmacogenomics: primary and secondary pipelines for population-specific insights.Frontiers in bioinformatics · 2026Article
- Empirical Drug Dosage Validates Pharmacogenomic Associations in All of Us.Clinical and translational science · 2025Article
- Drug repurposing for Alzheimer's disease using a graph-of-thoughts based large language model to infer drug-disease relationships in a comprehensive knowledge graph.BioData mining · 2025Article
- Expanding biobank pharmacogenomics through machine learning calls of structural variation.Genetics · 2025Article
- 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
- Biobanking with genetics shapes precision medicine and global health.Nature reviews. Genetics · 2025Review
- Pharmacogenomics Tools for Precision Public Health and Lessons for Low- and Middle-Income Countries: A Scoping Review.Pharmacogenomics and personalized medicine · 2025Review
- Pharmacogenetics: Opportunities for theAnnual review of pharmacology and toxicology · 2025Review
- Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.Frontiers in genetics · 2025Article
- Pharmacogenetic variations and clinical implications of actionable CYP2D6/CYP2C19 variants in Central Indian patients with common mental disorders.Frontiers in pharmacology · 2025Article
- PharmVar GeneFocus: CYP4F2.Clinical pharmacology and therapeutics · 2024Review
- Patterns of pharmacogenetic variation in nine biogeographic groups.Clinical and translational science · 2024Article
- Pharmacogenetics in Italy: current landscape and future prospects.Human genomics · 2024Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Pharmacogenomics (PGx) is an integral part of precision medicine and contributes to the maximization of drug efficacy and reduction of adverse drug event risk. Accurate information on PGx allele frequencies improves the implementation of PGx. Nonetheless, curating such information from published allele data is time and resource intensive. The limited number of allelic variants in most studies leads to an underestimation of certain alleles. We applied the Pharmacogenomics Clinical Annotation Tool (PharmCAT) on an integrated 200K UK Biobank genetic dataset (N = 200,044). Based on PharmCAT results, we estimated PGx frequencies (alleles, diplotypes, phenotypes, and activity scores) for 17 pharmacogenes in five biogeographic groups: European, Central/South Asian, East Asian, Afro-Caribbean, and Sub-Saharan African. PGx frequencies were distinct for each biogeographic group. Even biogeographic groups with similar proportions of phenotypes were driven by different sets of dominant PGx alleles. PharmCAT also identified "no-function" alleles that were rare or seldom tested in certain groups by previous studies, e.g., SLCO1B1
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.