{"id":1655,"date":"2026-07-27T14:37:44","date_gmt":"2026-07-27T18:37:44","guid":{"rendered":"https:\/\/cartagene.qc.ca\/projet\/improving-understanding-of-the-role-of-genetic-variations-in-human-disease-and-disease-related-traits-and-integrating-this-knowledge-into-discovery-of-new-drug-targets-and-disease-risk-prediction\/"},"modified":"2026-07-31T14:56:03","modified_gmt":"2026-07-31T18:56:03","slug":"improving-understanding-of-the-role-of-genetic-variations-in-human-disease-and-disease-related-traits-and-integrating-this-knowledge-into-discovery-of-new-drug-targets-and-disease-risk-prediction","status":"publish","type":"projet","link":"https:\/\/cartagene.qc.ca\/en\/projet\/improving-understanding-of-the-role-of-genetic-variations-in-human-disease-and-disease-related-traits-and-integrating-this-knowledge-into-discovery-of-new-drug-targets-and-disease-risk-prediction\/","title":{"rendered":"Improving understanding of the role of genetic variations in human disease and disease-related traits and integrating this knowledge into discovery of new drug targets and disease risk prediction"},"content":{"rendered":"<div class=\"htb htb-hero-simple htb-hero-simple--js   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-1 \" >\n\t<div class=\"container-fluid\">\n\t\t<div class=\"row\">\n\t\t\t<div class=\"col-12 \">\n\t\t\t\t<div class=\"content-box \">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"henri-breadcrumb-box\">\n\t\t\t<nav aria-label=\"breadcrumb\">\n\t\t\t\t<ol class=\"breadcrumb\" itemscope itemtype=\"http:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item \" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t<a href=\"https:\/\/cartagene.qc.ca\/en\/\">Home<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t<a href=\"\/en\/projects\">Projects<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item active\" aria-current=\"page\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">Improving understanding of the role of genetic variations in human disease and disease-related traits and integrating this knowledge into discovery of new drug targets and disease risk prediction<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/ol>\n\t\t\t<\/nav>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<h1 >Improving understanding of the role of genetic variations in human disease and disease-related traits and integrating this knowledge into discovery of new drug targets and disease risk prediction<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t<\/div>\n<\/div>\n\n\n<div class=\"htb htb-fiche_technique   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-2 \" >\n\n\t\n\t\t\t<div class=\"container-xxl\">\n\t\t\t<div class=\"row\">\n\t\t\t\t<div class=\"col-12\">\n\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Status<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Ongoing<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Start date<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">2021<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Location<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Quebec<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Researcher<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Mooser, Vincent<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Associated institution<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">The Research Institute of the McGill University Health Centre and McGill University<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Summary<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><p>Genetic variation plays an important role in the development of many common and rare diseases, but its impact remains poorly understood for numerous health conditions. This project aims to better understand how genetic differences influence health by using data from large research cohorts, including CARTaGENE, to identify genetic factors associated with diseases and health-related traits. The analyses focus on rare genetic variants, the relationships between genes and a wide range of health outcomes, and the development of methods to improve disease risk prediction based on an individual\u2019s genetic profile. The project has also led to the creation of two tools for exploring CARTaGENE genetic data: the CARTaGENE Variant Browser, which allows researchers to explore genetic variants observed in the cohort, and CARTaGENE PheWeb, which provides access to associations between genetic variants and numerous health traits and diseases. By combining genetic and other large-scale biological data, this work supports the advancement of precision medicine and the identification of new therapeutic targets.<\/p>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Themes<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Chronic diseases<\/li>\n<li>Genetics and genomics<\/li>\n<li>Methodology and biostatistics<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Data types<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Biochemical and hematological data<\/li>\n<li>Genetic data<\/li>\n<li>Linked data<\/li>\n<li>Physical and cognitive measures<\/li>\n<li>Questionnaire data<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\n<\/div>\n\n\n<div class=\"htb htb-liste-posts-simple   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-3 \" >\n\t<div class=\"container-xxl\">\n\t\t\t\t\t<div class=\"htb-liste-posts-simple-header\">\n\t\t\t\t\t\t\t\t\t<div class=\"header-intro\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t\t\t\t\t\t<h2 >Related resources<\/h2>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\n\t\t\n\t\t\t\t\t<div class=\"row posts-container\">\n\t\t\t\t<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Theses and dissertations<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2025\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Genetic variation in founder populations: Contrasting patterns on the X chromosome and autosomes<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/escholarship.mcgill.ca\/concern\/theses\/5t34sr049?locale=en\" target=\"_blank\" rel=\"noopener\" aria-label=\"Genetic variation in founder populations: Contrasting patterns on the X chromosome and autosomes\">Genetic variation in founder populations: Contrasting patterns on the X chromosome and autosomes<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Theses and dissertations<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2025\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Prevalence of rare diseases in the Quebec French Canadian population<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/escholarship.mcgill.ca\/concern\/theses\/8s45qg595\" target=\"_blank\" rel=\"noopener\" aria-label=\"Prevalence of rare diseases in the Quebec French Canadian population\">Prevalence of rare diseases in the Quebec French Canadian population<\/a>\n\t<\/div>\n<\/article>\n\t\t\t<\/div>\n\t\t\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"featured_media":0,"template":"","projet-categorie":[],"projet-status":[49],"projet-thematique":[53,51,57],"projet-type-donnees":[61,62,59,60,58],"projet-localisation":[64],"class_list":["post-1655","projet","type-projet","status-publish","hentry","projet-status-ongoing","projet-thematique-chronic-diseases","projet-thematique-genetics-and-genomics","projet-thematique-methodology-and-biostatistics","projet-type-donnees-biochemical-and-hematological-data","projet-type-donnees-genetic-data","projet-type-donnees-linked-data","projet-type-donnees-physical-and-cognitive-measures","projet-type-donnees-questionnaire-data","projet-localisation-quebec-en"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Improving understanding of the role of genetic 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