{"entity": "publication", "iuid": "b8e28bb7e0924bc890d6b2c2d625a78c", "timestamp": "2026-11-06T19:21:19.633Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b8e28bb7e0924bc890d6b2c2d625a78c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b8e28bb7e0924bc890d6b2c2d625a78c"}}, "title": "PharmFreq: a comprehensive atlas of ethnogeographic allelic variation in clinically important pharmacogenes.", "authors": [{"family": "Tremmel", "given": "Roman", "initials": "R", "orcid": "0000-0003-1564-0433", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5dcfb9d17c9340d69ea2c5fcbd06aeec.json"}}, {"family": "Zhou", "given": "Yitian", "initials": "Y", "orcid": "0000-0003-3066-5444", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4e92db79d554ad283927ad7e6e54e8d.json"}}, {"family": "Camara", "given": "Mahamadou D", "initials": "MD"}, {"family": "Laarif", "given": "Sofiene", "initials": "S"}, {"family": "Eliasson", "given": "Erik", "initials": "E"}, {"family": "Lauschke", "given": "Volker M", "initials": "VM", "orcid": "0000-0002-1140-6204", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/82048d4da61547d08aa9d2bb3bae12dd.json"}}], "type": "journal article", "published": "2025-01-06", "journal": {"title": "Nucleic Acids Res.", "issn": "1362-4962", "volume": "53", "issue": "D1", "pages": "D1498-D1509", "issn-l": "0305-1048"}, "abstract": "Genetic polymorphisms in drug metabolizing enzymes, drug transporters as well as in genes encoding the human major histocompatibility complex contribute to inter-individual differences in drug efficacy and safety. The extent, pattern and complexity of such pharmacogenetic variation differ drastically across human populations. Here, we present PharmFreq, a global repository of pharmacogenetic frequency information that aggregates frequency data of 658 allelic variants from over 10 million individuals collected from >1200 studies across 144 countries. Most investigations were conducted in East Asian and European populations, accounting for 29.4 and 26.6% of all studies, respectively. We find that the number of studies per country and aggregated cohort size correlated significantly with population size (R = 0.55, P= 3*10-9) and country gross domestic product (R = 0.43, P= 2*10-6) with overall population coverage varying between 5% in Estonia to < 0.001% in many countries in Sub-Saharan Africa and Asia. All frequency data are openly accessible via a web-based interactive dashboard at pharmfreq.com that facilitates the exploration, visualization and analysis of country- and population-specific data and their inferred phenotypic consequences. PharmFreq thus presents a comprehensive, freely available resource for pharmacogenetic variant frequencies that can inform about ethnogeographic pharmacogenomic diversity and reveal important inequities that help to focus future research efforts into underrepresented populations.", "doi": "10.1093/nar/gkae1016", "pmid": "39540424", "labels": {"DDLS Fellow": null, "Yitian Zhou": null}, "xrefs": [{"db": "pmc", "key": "PMC11701539"}, {"db": "pii", "key": "7900193"}], "notes": [], "created": "2026-11-06T09:35:20.571Z", "modified": "2026-11-06T09:35:20.615Z"}