ArticleHuman genetics2011
Genomic and genealogical investigation of the French Canadian founder population structure.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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Who cites it
45 citing papers in PubMed.
- Fine-scale structure of a whole regional population through genetics and genealogies.Nature communications · 2026Article
- A multi-ancestry genetic reference for the Quebec population.Nature communications · 2026Article
- The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026Article
- Using the ancestral recombination graph to study the history of rare variants in founder populations.American journal of human genetics · 2025Article
- Rare variants and founder effect in the Beauce region of Quebec.Communications biology · 2025Article
- Replication of a GWAS signal nearBlood neoplasia · 2025Article
- Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.medRxiv : the preprint server for health sciences · 2025Article
- Pedixplorer: a Bioconductor package to streamline pedigree design and visualization.Bioinformatics (Oxford, England) · 2025Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Review
- Deciphering the genetic structure of the Quebec founder population using genealogies.European journal of human genetics : EJHG · 2024Article
- Fine-scale genetic structure and rare variant frequencies.PloS one · 2024Article
- Genomic signatures of bottleneck and founder effects in dingoes.Ecology and evolution · 2023Article
- Assessment of burden and segregation profiles of CNVs in patients with epilepsy.Annals of clinical and translational neurology · 2022Article
- Recombination affects allele-specific expression of deleterious variants in human populations.Science advances · 2022Article
- Article
- A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.Genome medicine · 2021Article
- Estimated prevalence of Niemann-Pick type C disease in Quebec.Scientific reports · 2021Article
- Correspondence Between Genomic- and Genealogical/Coalescent-Based Inference of Homozygosity by Descent in Large French-Canadian Genealogies.Frontiers in genetics · 2021Article
- Polygenic risk scores of several subtypes of epilepsies in a founder population.Neurology. Genetics · 2020Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Characterizing the genetic structure of worldwide populations is important for understanding human history and is essential to the design and analysis of genetic epidemiological studies. In this study, we examined genetic structure and distant relatedness and their effect on the extent of linkage disequilibrium (LD) and homozygosity in the founder population of Quebec (Canada). In the French Canadian founder population, such analysis can be performed using both genomic and genealogical data. We investigated genetic differences, extent of LD, and homozygosity in 140 individuals from seven sub-populations of Quebec characterized by different demographic histories reflecting complex founder events. Genetic findings from genome-wide single nucleotide polymorphism data were correlated with genealogical information on each of these sub-populations. Our genomic data showed significant population structure and relatedness present in the contemporary Quebec population, also reflected in LD and homozygosity levels. Our extended genealogical data corroborated these findings and indicated that this structure is consistent with the settlement patterns involving several founder events. This provides an independent and complementary validation of genomic-based studies of population structure. Combined genomic and genealogical data in the Quebec founder population provide insights into the effects of the interplay of two important sources of bias in genetic epidemiological studies, unrecognized genetic structure and cryptic relatedness.
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Registered trials
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