Improving understanding of the role of genetic variations in human disease and disease-related traits and integrating this knowledge into discovery of new drug targets and disease risk prediction

Genetic variation plays an important role in the development of many common and rare diseases, but its impact remains poorly understood for numerous health conditions. This project aims to better understand how genetic differences influence health by using data from large research cohorts, including CARTaGENE, to identify genetic factors associated with diseases and health-related traits. The analyses focus on rare genetic variants, the relationships between genes and a wide range of health outcomes, and the development of methods to improve disease risk prediction based on an individual’s genetic profile. The project has also led to the creation of two tools for exploring CARTaGENE genetic data: the CARTaGENE Variant Browser, which allows researchers to explore genetic variants observed in the cohort, and CARTaGENE PheWeb, which provides access to associations between genetic variants and numerous health traits and diseases. By combining genetic and other large-scale biological data, this work supports the advancement of precision medicine and the identification of new therapeutic targets.

• Chronic diseases
• Genetics and genomics
• Methodology and biostatistics

• Biochemical and hematological data
• Genetic data
• Linked data
• Physical and cognitive measures
• Questionnaire data