AstraZeneca Team Builds Phenome-wide Structural Variant Map from Over 460,000 UK Biobank Whole Genomes, Linking SVs to Complex Diseases and Drug Targets

An AstraZeneca team published a study in Cell constructing a phenome-wide structural variant (SV) map from whole-genome sequencing data of more than 460,000 UK Biobank individuals. Combining SV-PheWAS and SV-pQTLs analyses, the work reveals associations between SVs and complex diseases and drug targets. Compared with the 1000 Genomes project and gnomAD, which covers about 150,000 people and over one million SVs, the study expands the sample size to more than 460,000; the two analyses together help prioritize candidate genes and connect genetic findings to therapeutic development.