{"doi":"10.1038/s41467-026-68820-7","title":"A multi-ancestry genetic reference for the Quebec population","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 Mendelian diseases in founder sub-populations. Here, we analyze genome-wide genotyped variation in 29,337 Quebec residents from the multi-ancestry population-based cohort CARTaGENE (CaG) who provided DNA samples. We also sequence the whole-genome of 2,173 CaG participants with four grandparents born in Canada (n = 1879), Haiti (n = 163) and Morocco (n = 131). 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 (e.g., SPG7 implicated in hereditary spastic paraplegia). We validate an imputation panel constructed by phasing the CaG whole-genome sequence data and find, using genome-wide association studies (GWAS) of 42 clinically relevant traits, that it increases the number of associated loci by ~7% when compared to results obtained after imputation with the larger TOPMed imputation panel. We provide allele frequency information and GWAS results through dedicated and publicly available websites. The genetic data, paired with phenotypic and environmental information, is available for global research use.","journal":"Nature Communications","year":2026,"id":5387,"datarank":0.16479184330021646,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.0,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.0,"corpus_percentile":42.961757526444266,"corpus_rank":695,"citation_count":2,"citer_count":1,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.7965,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2026-02-03","fair_score":36.25,"fair_percentile":17.963940193491645,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":53253,"name":"Georgette Femerling","orcid":"0000-0001-6543-3155","position":1,"is_corresponding":false},{"id":53254,"name":"Rose Laflamme","orcid":null,"position":2,"is_corresponding":false},{"id":53255,"name":"Alejandro Mejia-Garcia","orcid":null,"position":3,"is_corresponding":false},{"id":53256,"name":"Mohadese Sayahian Dehkordi","orcid":null,"position":4,"is_corresponding":false},{"id":53257,"name":"Hongyu Xiao","orcid":"0009-0006-1022-5440","position":5,"is_corresponding":false},{"id":36644,"name":"Alex Diaz-Papkovich","orcid":"0000-0002-2867-5494","position":6,"is_corresponding":false},{"id":53258,"name":"Justin Pelletier","orcid":"0000-0001-7324-5226","position":7,"is_corresponding":false},{"id":53259,"name":"Jean-Christophe Grenier","orcid":null,"position":8,"is_corresponding":false},{"id":70739,"name":"Andrea Maschio","orcid":"0000-0002-4238-9144","position":9,"is_corresponding":false},{"id":36645,"name":"Luke Anderson-Trocmé","orcid":"0000-0001-9187-2792","position":10,"is_corresponding":false},{"id":53260,"name":"Justin Bellavance","orcid":null,"position":11,"is_corresponding":false},{"id":53261,"name":"Vincent Chapdelaine","orcid":"0000-0002-0299-8754","position":12,"is_corresponding":false},{"id":53262,"name":"Geneviève Gagnon","orcid":"0009-0003-5747-7918","position":13,"is_corresponding":false},{"id":53263,"name":"Annelie De Mori","orcid":null,"position":14,"is_corresponding":false},{"id":53264,"name":"Gerardo Martinez","orcid":null,"position":15,"is_corresponding":false},{"id":53265,"name":"Kristen Mohler","orcid":null,"position":16,"is_corresponding":false},{"id":53266,"name":"Thibault de Malliard","orcid":null,"position":17,"is_corresponding":false},{"id":53267,"name":"Catherine Labbé","orcid":"0009-0005-5932-4602","position":18,"is_corresponding":false},{"id":53268,"name":"Marjorie Labrecque","orcid":"0000-0002-6150-4144","position":19,"is_corresponding":false},{"id":53269,"name":"Alexandre Montpetit","orcid":null,"position":20,"is_corresponding":false},{"id":53270,"name":"Dan Spiegelman","orcid":"0000-0003-4971-8868","position":21,"is_corresponding":false},{"id":53271,"name":"Guy A. Rouleau","orcid":"0000-0001-8403-1418","position":22,"is_corresponding":false},{"id":53272,"name":"Jean-François Théroux","orcid":null,"position":23,"is_corresponding":false},{"id":53273,"name":"Hufeng Zhou","orcid":"0000-0001-9382-5674","position":24,"is_corresponding":false},{"id":53274,"name":"Simon L. Girard","orcid":"0000-0002-4089-2280","position":25,"is_corresponding":false},{"id":53275,"name":"Julie G. Hussin","orcid":"0000-0003-4295-3339","position":26,"is_corresponding":false},{"id":53276,"name":"Anne-Marie Laberge","orcid":null,"position":27,"is_corresponding":false},{"id":53277,"name":"Claude Bhérer","orcid":"0000-0002-2744-7246","position":28,"is_corresponding":false},{"id":53278,"name":"Martine Tetreault","orcid":null,"position":29,"is_corresponding":false},{"id":53279,"name":"Sarah A. Gagliano Taliun","orcid":"0000-0003-1306-1868","position":30,"is_corresponding":false},{"id":20874,"name":"Christopher D. Brown","orcid":"0000-0002-3785-5008","position":31,"is_corresponding":false},{"id":35177,"name":" Simon Gravel ","orcid":"0000-0002-9183-964X","position":32,"is_corresponding":false},{"id":22003,"name":"Guillaume Lettre","orcid":"0000-0002-7740-3399","position":33,"is_corresponding":false},{"id":53280,"name":"Hyejin Lee","orcid":"0000-0001-8917-2842","position":34,"is_corresponding":false},{"id":53281,"name":"Gerardo Sánchez Martínez","orcid":"0000-0002-3290-6195","position":35,"is_corresponding":false},{"id":53282,"name":"Jean‐François Théroux","orcid":null,"position":36,"is_corresponding":false},{"id":53283,"name":"M.H. Tetreault","orcid":null,"position":37,"is_corresponding":false},{"id":53284,"name":"John Baksi","orcid":null,"position":38,"is_corresponding":false},{"id":53252,"name":"Peyton McClelland","orcid":"0009-0009-7671-8506","position":0,"is_corresponding":true}],"reference_count":97,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":"41634041","pmcid":"PMC12868634","fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":"gold","license":"cc-by-nc-nd","views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":52.5,"fair_a":42.5,"fair_i":25.0,"fair_r":25.0,"fair_zscore":-0.8106,"fair_rationale":{"fair_score":36.25,"has_llm":true,"dimensions":{"F":{"name":"Findable","score":52.5,"criteria":[{"key":"f_has_doi","label":"Has a persistent DOI","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"DOI present","rationale":null},{"key":"f_repository_presence","label":"Indexed in repositories / literature DBs","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"datacite=0, pmcid=True, pmid=True","rationale":null},{"key":"f_persistent_ids","label":"Resolvable scholarly identifiers (OpenAlex)","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"no OpenAlex id","rationale":null},{"key":"f_metadata_richness","label":"Rich, machine-readable metadata","kind":"llm","weight":1.0,"fraction":0.25,"signal":null,"rationale":"The paper mentions publicly available websites for allele frequencies and GWAS results, but does not specify machine-readable formats or structured metadata."}]},"A":{"name":"Accessible","score":42.5,"criteria":[{"key":"a_open_access","label":"Open Access / files deposited","kind":"deterministic","weight":1.5,"fraction":1.0,"signal":"Open Access","rationale":null},{"key":"a_retrievable","label":"Free full text retrievable","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"0 OA location(s)","rationale":null},{"key":"a_access_protocol","label":"Clear data/code access protocol","kind":"llm","weight":1.0,"fraction":0.25,"signal":null,"rationale":"The text states data is available for global research use but lacks a clear, step-by-step access protocol or contact information."}]},"I":{"name":"Interoperable","score":25.0,"criteria":[{"key":"i_linked_data","label":"Linked datasets / DataCite relations","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"linked_datasets=0, datacite=0","rationale":null},{"key":"i_standard_ids","label":"References data via standard accessions","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"accessions=0, trials=0","rationale":null},{"key":"i_standards","label":"Standard formats, vocabularies & identifiers","kind":"llm","weight":1.0,"fraction":0.5,"signal":null,"rationale":"The paper uses standard genetic identifiers (dbSNP, ClinVar) and references common databases, but does not explicitly state use of standard file formats (e.g., VCF) for data distribution."}]},"R":{"name":"Reusable","score":25.0,"criteria":[{"key":"r_license","label":"Clear, open reuse license","kind":"deterministic","weight":1.5,"fraction":0.0,"signal":"no license","rationale":null},{"key":"r_downloads","label":"Demonstrated reuse (downloads)","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"downloads=0","rationale":null},{"key":"r_version","label":"Versioned / maintained","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"no version chain","rationale":null},{"key":"r_dataset","label":"Classified as a data resource","kind":"deterministic","weight":0.5,"fraction":1.0,"signal":"is_dataset","rationale":null},{"key":"r_reusability","label":"Data-availability statement, license & reproducibility","kind":"llm","weight":2.0,"fraction":0.333,"signal":null,"rationale":"A Creative Commons license (CC BY-NC-ND) is provided, but it restricts commercial use and derivatives; no code availability or detailed data availability statement is given."}]}},"suggestions":["Provide machine-readable metadata (e.g., API endpoints or downloadable VCF/JSON files) for the variant and GWAS browsers.","Publish a clear data access protocol, including a data use agreement, contact email, and application process for individual-level data.","Use standard file formats (e.g., VCF, BED, PLINK) for all released genetic data and provide accompanying documentation.","Release all analysis code in a public repository (e.g., GitHub) with an open-source license to ensure reproducibility.","Add a formal data availability statement with a persistent identifier (e.g., DOI) for the dataset and reference it in the paper."],"model":"deepseek/deepseek-v4-flash","agent_version":"fair_agent_v1","fulltext_source":"epmc_xml"},"fair_model":"deepseek/deepseek-v4-flash","fair_agent_version":"fair_agent_v1","fair_fulltext_source":"epmc_xml","fair_has_llm":true,"fair_computed_at":"2026-06-17T23:00:12.816758Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}