InGENiHUs (Inversion GENotyping in HUmans) is a new method for high-throughput genotyping of inversions, which are genetic structural variants that change the orientation of a DNA segment and could have important consequences in diseases and health-related traits. We are looking for industry partners interested in commercializing this tool through a licensing deal and collaborations with research centers, biobanks, and pharmaceutical companies to study new associations between inversions and complex diseases in well-characterized human DNA samples that create new opportunities in personalized medicine.
Due to the technical difficulties of their detection, inversions have been largely missed by current studies. Our new high-throughput genotyping tool focuses specifically on those inversions most difficult to detect with existing methods and makes it possible to determine their functional impact for the first time. This tool, based on probe hybridization, allows for the simultaneous detection of multiple inversions in hundreds of individuals in a few days and at an affordable cost. To date, around 50 inversions have been genotyped in 550 individuals from seven populations (European, African or Asian ancestry).