Evidence map›Paper›PMID 40463523›Full record

ArticlemedRxiv : the preprint server for health sciences2025

A multi-ancestry genetic reference for the Quebec population.

Peyton McClelland, Georgette Femerling, Rose Laflamme, Alejandro Mejia-Garcia, Mohadese Sayahian Dehkordi, Hongyu Xiao, Alex Diaz-Papkovich, Justin Pelletier, Jean-Christophe Grenier, Ken Sin Lo and 24 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

34 authors.

Peyton McClellandDepartment of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Georgette FemerlingDepartment of Human Genetics, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Rose LaflammeMontreal Heart Institute, 5000 Belanger Street, Montreal, Quebec, H1T 1C8, Canada.
Alejandro Mejia-GarciaDepartment of Human Genetics, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Mohadese Sayahian DehkordiDepartment of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Hongyu XiaoDepartment of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Alex Diaz-PapkovichQuantitative Life Sciences, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Justin PelletierDepartment of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Jean-Christophe GrenierMontreal Heart Institute, 5000 Belanger Street, Montreal, Quebec, H1T 1C8, Canada.
Ken Sin LoMontreal Heart Institute, 5000 Belanger Street, Montreal, Quebec, H1T 1C8, Canada.
Luke Anderson-TrocméDepartment of Human Genetics, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Justin BellavanceMontreal Heart Institute, 5000 Belanger Street, Montreal, Quebec, H1T 1C8, Canada.
Vincent ChapdelaineDepartment of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Geneviève GagnonDepartment of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Annelie De MoriDepartment of Biochemistry and Molecular Medicine, Université de Montréal, 2900 Boulevard Edouard-Montpetit, Montreal, Quebec, H3C 3J7, Canada.
Gerardo MartinezDepartment of Human Genetics, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Kristen MohlerDepartment of Pediatrics, Medical Genetics, Université de Montréal, 2900 Boulevard Edouard-Montpetit, Montreal, Quebec, H3C 3J7, Canada.
Thibault de MalliardCARTaGENE, CHU Sainte-Justine Research Center, 3175 Côte-Ste-Catherine, Montreal, Quebec, H3T1C5, Canada.
Catherine LabbéCARTaGENE, CHU Sainte-Justine Research Center, 3175 Côte-Ste-Catherine, Montreal, Quebec, H3T1C5, Canada.
Marjorie LabrecqueCentre de recherche du Centre Hospitalier de l'Université de Montréal, 900 rue St-Denis, Montreal, Quebec, H2X 0A9, Canada.
Alexandre MontpetitGénome Québec, 3175 Côte-Ste-Catherine, Montreal, Quebec, H3T1C5, Canada.
Dan SpiegelmanCHU Sainte-Justine, 3175 Côte-Ste-Catherine, Montreal, Quebec, H3T1C5, Canada.
Guy A RouleauMontreal Neurological Institute-Hospital, Department of Neurology and Neurosurgery, 3801 Rue University, Montreal, Quebec, H3A 2B4, Canada.
Jean-François ThérouxGénome Québec, 3175 Côte-Ste-Catherine, Montreal, Quebec, H3T1C5, Canada.
Hufeng ZhouDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA.
Simon L GirardFundamental Sciences, Université du Québec à Chicoutimi, 555, Boulevard de l'Université, Chicoutimi, Quebec, G7H3P6, Canada.ORCID 0000-0002-4089-2280
Julie G HussinMontreal Heart Institute, 5000 Belanger Street, Montreal, Quebec, H1T 1C8, Canada.ORCID 0000-0003-4295-3339
Anne-Marie LabergeDepartment of Pediatrics, Medical Genetics, Université de Montréal, 2900 Boulevard Edouard-Montpetit, Montreal, Quebec, H3C 3J7, Canada.
Claude BhérerDepartment of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Martine TetreaultCentre de recherche du Centre Hospitalier de l'Université de Montréal, 900 rue St-Denis, Montreal, Quebec, H2X 0A9, Canada.
Sarah A Gagliano TaliunMontreal Heart Institute, 5000 Belanger Street, Montreal, Quebec, H1T 1C8, Canada.ORCID 0000-0003-1306-1868
Daniel TaliunDepartment of Human Genetics, McGill CERC Program in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Simon GravelDepartment of Human Genetics, Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, 740 Av. du Docteur-Penfield, Montreal, Quebec, H3A 0G1, Canada.
Guillaume LettreMontreal Heart Institute, 5000 Belanger Street, Montreal, Quebec, H1T 1C8, Canada.

Funding

Statistical Methods for Analysis of Massive Genetic and Genomic Data in Cancer ResearchR35CA197449 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2015 to 2026
$10.9M
Predictive Modeling of the Functional and Phenotypic Impacts of Genetic VariantsU01HG012064 · NHGRI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI Manuel Garber, XIHONG LIN · 2021 to 2026
$4.0M
Statistical Methods for Integrative Analysis of Large-Scale Whole Genome Sequencing Studies and Biobanks of Common DiseasesR01HL163560 · NHLBI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2022 to 2026
$2.6M
NCI NIH HHS R35 CA197449NHGRI NIH HHS U01 HG012064NHLBI NIH HHS R01 HL163560
6 · The paper itself

Abstract

While international efforts have characterized genetic variation in millions of individuals, the interplay of environmental, social, cultural, and genetic factors is poorly understood for most worldwide populations. The province of Quebec in Canada has been the site of numerous genetic studies, often focusing on individual Mendelian diseases in founder sub-populations. Here, we profiled and analyzed genome-wide genotyped variation in 29,337 Quebec residents from the large population-based cohort CARTaGENE (CaG), including rich phenotype and environmental data. We also sequenced the whole-genome of 2,173 CaG participants, including 163 and 132 individuals with grandparents born in Haiti and Morocco, respectively. We use this genetic information to gain insight into Quebec's demography and to help interpret the potential significance of variants identified in clinically important genes. We built an imputation panel by phasing the CaG whole-genome sequence data and showed, using genome-wide association studies (GWAS), how it improves the discovery of phenotype-genotype associations in this population. We provide allele frequency information and GWAS results through dedicated and publicly available websites. The genetic data, paired with phenotypic and environmental information, is also available for research use upon scientific and ethical review.

Indexed as

CARTaGENEfounder populationgenotype imputationQuebecSPG7

Identifiers

PMID40463523
PMCPMC12132166

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.