ArticleHuman genetics2016
Whole-genome sequencing in French Canadians from Quebec.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Validation of Genome-Wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians.Circulation. Genomic and precision medicine · 2019Pooled it
- 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
- Estimating Lactase Nonpersistence Distributions in the Multi-Ethnic Canadian Demographic: A Population-Based Study.Journal of the Canadian Association of Gastroenterology · 2020Article
- Ventricular Arrhythmia in Septal and Apical Hypertrophic Cardiomyopathy: The French-Canadian Experience.Frontiers in cardiovascular medicine · 2020Article
- Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications.Journal of assisted reproduction and genetics · 2019Article
- Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.Scientific reports · 2019Article
- Variants at the APOE /C1/C2/C4 Locus Modulate Cholesterol Efflux Capacity Independently of High-Density Lipoprotein Cholesterol.Journal of the American Heart Association · 2018Article
- Genetic-Driven Druggable Target Identification and Validation.Trends in genetics : TIG · 2018Review
- Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels.Genetic epidemiology · 2017Article
- Polygenic determinants in extremes of high-density lipoprotein cholesterol.Journal of lipid research · 2017Article
- Population Stratification in Genetic Association Studies.Current protocols in human genetics · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenotypic variation. Rarer genetic variation is geographically more restricted, supporting the need for local whole-genome sequencing (WGS) efforts to study these variants in specific populations. Here, we present the first large-scale low-pass WGS of the French-Canadian population. Specifically, we sequenced at ~5.6× coverage the whole genome of 1970 French Canadians recruited by the Montreal Heart Institute Biobank and identified 29 million bi-allelic variants (31 % novel), including 19 million variants with a minor allele frequency (MAF) <0.5 %. Genotypes from the WGS data are highly concordant with genotypes obtained by exome array on the same individuals (99.8 %), even when restricting this analysis to rare variants (MAF <0.5, 99.9 %) or heterozygous sites (98.9 %). To further validate our data set, we showed that we can effectively use it to replicate several genetic associations with myocardial infarction risk and blood lipid levels. Furthermore, we analyze the utility of our WGS data set to generate a French-Canadian-specific imputation reference panel and to infer population structure in the Province of Quebec. Our results illustrate the value of low-pass WGS to study the genetics of human diseases in the founder French-Canadian population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.