Grant: CIHR Fellowship

We aim to improve our understanding of how genetic variations contribute to human traits and diseases by studying individuals from Quebec, Canada. Traditional genetic studies have focused on DNA variations only a few letters in length but neglected larger genetic mutations, called structural variants (SVs), because they are difficult to detect. By creating a comprehensive map of SVs, also known as a pangenome, that is representative of Quebec, we can better identify these genetic variations and their impact on health. Using advanced genotyping methods developed in the emerging field of human pangenomics, we will analyze SVs in thousands of participants from the CARTaGENE biobank. By comparing these genetic variations with various traits and health conditions, such as blood pressure, lung function, and bone density, we hope to uncover new insights into the genetic factors underlying these traits. This research could lead to the discovery of novel genetic risk factors for diseases and provide valuable information for personalized medicine. Additionally, the Quebec pangenome created in this study will be a valuable resource for future genetic research in the Quebec population, helping to advance our understanding of human genetics and health.