Cell · 2026
A phenome-wide structural variant map from 467,152 UK Biobank genomes.
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Atanur Santosh S, Hu Fengyuan, Lou Haiyi, Li Xiaoyin, Zou Xueqing Zoe, O'Dell Sean, Deevi Sri V V, Sawczuk Paula, Megy Karyn, Fairhurst-Hunter Zammy, O'Neill Amanda, AstraZeneca Genomics Initiative, Tian Lifeng, Carss Keren, Mitchell Jonathan, MacArthur Stewart, Wasilewski Sebastian, Dhindsa Ryan S, Wang Quanli, Smith Katherine R, Burren Oliver S, Petrovski Slavé
Аннотация
Structural variants (SVs) are large (>50 base pairs) genomic rearrangements that can significantly influence human phenotypes, yet their contribution to health and disease remains undercharacterized. We conducted a phenome-wide association study (PheWAS) of 1.6 million SVs identified in whole-genome sequencing data from 467,152 UK Biobank participants, across 13,322 binary, 2,018 quantitative, and 2,923 plasma protein traits. Of these, 82.25% of SVs were outside the detectable range of prior copy-number variant studies. Protein quantitative trait loci analysis linked 3,467 SVs to 1,690 proteins, with effects dependent on SV type and location. In SV-PheWAS, we detected 28,184 associations with human health outcomes. Notably, we uncovered rare SVs with strong phenotypic effects. Furthermore, we show that at known genome-wide association study loci, 32.21% of associated SVs overlapped functional genomic regions. This study underscores the underestimated role of SVs in human genetics and their potential to advance understanding of human biology and drug discovery.