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A multi-ancestry genetic reference for the Quebec population
Peyton McClelland1, Georgette Femerling2, Rose Laflamme3,4
1Department of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, Montreal, QC, Canada.
Nature Communications
|February 3, 2026
Summary
This study analyzes genetic variation in 29,337 Quebec residents, revealing insights into population demographics and disease-related genetic variants. A new imputation panel improved genome-wide association study (GWAS) results for 42 traits.
Area of Science:
- Population Genetics
- Genomics
- Bioinformatics
Background:
- International genetic studies often overlook environmental and social factors.
- Quebec has a history of genetic research, particularly on founder populations and Mendelian diseases.
- Understanding genetic variation in diverse populations is crucial for interpreting health data.
Purpose of the Study:
- To analyze genome-wide genetic variation in Quebec residents from the CARTaGENE cohort.
- To gain insights into Quebec's demography and interpret clinically relevant genetic variants.
- To validate a novel imputation panel for genetic analysis.
Main Methods:
- Genome-wide genotyping of 29,337 Quebec residents.
- Whole-genome sequencing of 2,173 participants from Canada, Haiti, and Morocco.
- Development and validation of a custom imputation panel using phased whole-genome sequence data.
- Genome-wide association studies (GWAS) on 42 clinically relevant traits.
Main Results:
- Analysis of genetic variation provided insights into Quebec's demography.
- The custom imputation panel increased associated loci by ~7% in GWAS compared to the TOPMed panel.
- Allele frequency and GWAS results are publicly available.
Conclusions:
- The study provides valuable genetic data for Quebec's multi-ancestry population.
- The developed imputation panel enhances the power of GWAS for identifying genetic associations.
- Publicly accessible genetic and phenotypic data support global research efforts.
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