Our research aim is to use the UK Biobank resource to: a) identify novel environmental and genetic factors affecting monogenic and common disorders; b) explore pleiotropic relationships across traits that can help characterize and/or expand current (molecular) disease definitions; c) construct, calibrate and optimize polygenic risk scores that can aid clinicians in improving healthcare of patients affected with monogenic conditions and complex chronic diseases, by stratifying risk and/or re-evaluate treatment indications. Novel genetic insights into the molecular mechanisms will provide support to clinical decision-making; in particular for disease screening, diagnosis, prognosis, and treatment. All efforts are expected to be finished in the next 36 months.
