The study of genetic variants in the human genome and their application to personalized medicine has exploded since the completion of the human genome sequence in 2001. In particu­lar, single-nucleotide polymorphisms (SNPs) and copy-number variations have been characterized in great detail. To date, however, very few of these analyses have uncovered mechanisms involved in disease. One type of genetic variant that has been stud­ied very little, despite the fact that it was shown to be at the root of simple and complex diseases and other relevant traits, is genomic inversions. A number of technical limitations due to the dif­ficulty of determining DNA-segment orientation through sequencing or the use of SNP microarrays have made such studies extremely rare.
The Com­parative and Functional Genomics scientific group of the UAB as part of an ambi­tious project funded by the European Research Council (ERC) with a €1.5 million ($1.68 million) is carrying out the complete characterization of polymorphic inver­sions in the human genome. The group recently published the first high-quality partial catalogue of several hundred polymorphic inversions and they have found that many inversions are not associated to SNPs and have been missed by genome-wide association studies. In addi­tion, the group have obtained 2 ERC Proof of Concept Grant to develop an effi­cient and high-throughput assay for genotyping inversions in hundreds of samples in a fast and easy way, INGENIHUS.

This new high-throughput genotyping assay focuses specifically on those inversions most difficult to detect with existing methods and makes it possible to study the potential functional consequences of these variants. The development of INGENIHUS has created a new opportunity for progress in the diagnosis and prognosis of genetic diseases that could be treated with personalized medicine.

This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (grant agreement No 755027)