An important aim of current biomedical research is finding the genetic basis of individual characteristics. Since the development of the human genome project, multiple studies have created deeper catalogues of human genetic variants. However, not all the classes of variants have been studied to the same level of detail. Inversions are one type of genetic variants that affect a large fraction of the human genome and that have been implicated in differences between individuals, both in humans and other organisms. Nevertheless, they have been poorly studied due to technical challenges in their detection, which has precluded determining their role in different diseases and other traits of interest. In addition, inversions are usually located in complex genomic regions that include several rearrangements and that are very difficult to characterize with current methods. In this project, we will take advantage of all the knowledge generated about these variants during the last years to fill an important void in the study of the genetic basis of human diseases. Specifically, we will use different computational methods to infer accurately as many as possible of these little-known variants in the UK Biobank population. Next, we will use the extremely useful information available of each individual to investigate their role in the susceptibility of multiple common diseases and other health-related traits. Thus, this analysis could uncover previously unknown disease associations of inversions and complex variants, which could result in potential improvements in diagnostics and therapy with significant social benefits. Moreover, we will generate new data that could be used in future studies.
