AstraZeneca team maps structural variants in 467,152 UK Biobank whole genomes, linking SVs to complex diseases and drug targets

An AstraZeneca research team analyzed whole-genome sequencing data from 467,152 UK Biobank participants and identified approximately 1.6 million structural variants (SVs). SV-PheWAS detected 28,184 association signals related to human health outcomes, and SV-pQTL analysis linked 3,467 SVs to 1,690 plasma proteins.