VUS
Principal investigator
Each individual human genome contains an average of 3-4 million variants that may indicate susceptibility to disease development. A complicating factor in genetic studies are variants of unknown significance (VUS), which make up about 40% of the total variants and whose influence on the function, ie the health of the organism, is unknown. A molecular biological approach to the characterization of clinically relevant VUS will be tested using prokaryotic cells as molecular sensors. The implementation of the concept will 1) speed up the characterization of VUS and 2) significantly reduce the costs of VUS classification. By proving the innovative concept of analysis of clinically relevant VUS, we make an important step forward for genetic diagnosis of relevant diseases and personalized medicine.