This second sequencing project aims to enrich the Quebec reference genome by sequencing new genomes from founder populations and underrepresented groups. The project will support research on disease and aging, while improving the clinical interpretation of genetic variants.
Whole genome sequencing 2025
Status
Ongoing
Start date
2025-04-01
Sample size
1754
Study objective
Enrich the Quebec reference genome
Description
The GénoRef-Q project has already enabled the whole-genome sequencing of 2,184 participants, a first step toward creating a reference genome representative of the Québec population. The present initiative aims to sequence an additional 1,754 genomes, targeting both regions with a founder effect (such as Beauce and Bas-Saint-Laurent) and groups of diverse origins that are underrepresented in international genetic databases.
Although focused on generating genomic data, this initiative will significantly strengthen Québec’s capacity to study chronic diseases and the rapid aging of its population. It will also improve the representation of Québec’s genetic diversity and provide an essential resource for biomedical research, population genetics, and the clinical interpretation of genetic variants.
