A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank

We developed an accurate and highly scalable method for genotyping copy-number variants from sequencing data using read depth. Applying this to the UK Biobank, we performed phenome-wide association studies of >13,000 traits, identifying 501 CNVs associated with 1,537 traits, providing numerous insights into their effects on human traits.