Genomics in the CARTaGENE cohort

This project aimed to demonstrate the full potential of the genetic data collected in the CARTaGENE cohort. A multidisciplinary team of researchers analyzed newly generated whole‑genome sequencing data and updated genotyping data to better understand genetic diversity in Quebec, including rare or clinically relevant variants.
The project also highlights how these data can support a wide range of health research questions, including large-scale genetic analyses (GWAS and PheWAS) and the use of polygenic risk scores to study disease risk. Key contributions include an updated portrait of the cohort, new insights into regional population genetics, the characterization of complex genetic variation, improvements in genotype imputation, and the development of interactive tools to explore results.
This collaborative effort among multiple research teams aims to increase the visibility of the biobank and support future advances in genetic and population health research.

• Genetics and genomics
• Methodology and biostatistics

• Genetic data
• Questionnaire data