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

A phenome-wide association study of 1.6 million structural variants in 467,152 UK Biobank participants identified 28,184 links to human health outcomes, revealing the significant impact of SVs.

• Why it matters: Understanding the contribution of structural variants to human health is limited, despite their potential to influence phenotypes and disease, highlighting a critical gap in human genetics research.
• What they did: Researchers analyzed whole-genome sequencing data from 467,152 individuals, detecting 1.6 million SVs across diverse traits, and linked 3,467 SVs to 1,690 proteins, with effects varying by SV type and location.
• The result: The findings demonstrate that many SVs, including rare variants, have strong phenotypic effects and overlap with functional genomic regions at GWAS loci, emphasizing SVs' underestimated role in human biology and disease.