A phenome-wide structural variant map from 467,152 UK Biobank genomes.

A phenome-wide association study of 1.6 million structural variants in whole-genome sequencing data from 467,152 UK Biobank participants detected 28,184 associations with human health outcomes across 13,322 binary, 2,018 quantitative and 2,923 plasma protein traits. Protein quantitative trait loci analysis linked 3,467 SVs to 1,690 proteins, and 82.25% of SVs lay outside the detectable range of prior copy-number variant studies. The work shows structural variants carry phenotypic effects that earlier methods missed.