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Article

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.

Nature - 1 Apr 2026

Zou Xueqing Zoe, Hu Fengyuan, Lou Haiyi, Burren Oliver S, Li Xiaoyin, Megy Karyn, Wheeler Eleanor, Wu Qiang, Atanur Santosh S, Karpinski Marcin, Loesch Douglas, Fairhurst-Hunter Zammy, Deevi Sri V V, Oerton Erin, Wen Sean, Jiang Xiao, Salvoro Cecilia, Mitchell Jonathan, Nag Abhishek, Hollis Ben, O'Neill Amanda, Harrow Jen, MacArthur Stewart, Wasilewski Sebastian, O'Dell Sean, Tian Lifeng, Smith Katherine R, Del Angel Guillermo, Fabre Margarete, Dhindsa Ryan S, Wang Quanli, Petrovski Slavé, Carss Keren

Abstract excerpt

Copy number variants (CNVs) are key drivers of human diversity and disease risk1. Here we evaluate the role of CNVs across a broad range of human phenotypes and diseases by analysing CNVs from 470,727 UK Biobank whole-genome sequences and conducting a variant- and gene-level phenome-wide association study (PheWAS) with 2,941 plasma protein abundance measurements, 13,336 binary clinical phenotypes and 1,911...

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Identifiers

PMID: 41639462
DOI: 10.1038/s41586-025-10087-x
PMCID: PMC13083251

Genes

SLC2A9
TMPRSS5
ZNF451

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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