Genetics is known to be an important contributing factor to many health-related traits. Much of the known contribution comes from small variants (single nucleotide polymorphisms or SNPs) that affect only a single DNA “letter”. In recent years, there has been a growing appreciation that large-scale genetic variation (structural variation or copy number variation) can also have a large impact on both common and rare diseases. Work by us and by others has shown that this structural variation in the genome plays an important role in diverse conditions including schizophrenia, heart disease, kidney disease and auto-immune diseases including lupus, among others. In this study, we will use the resources of the UK Biobank to improve our understanding of how structural variation in different parts of the genome impacts many different diseases and other health-related traits. We will use computer algorithms to look for evidence of genome structural variation in the genetic data from the UK Biobank participants and for evidence linking this structural variation to specific genes and diseases across the study participants. This multi-year project will help us to understand which genes are involved in different conditions, which we hope will in turn improve the accuracy of disease diagnosis and suggest potential targets for the development of new therapies.
