{"id":2560,"date":"2019-03-28T17:54:50","date_gmt":"2019-03-28T17:54:50","guid":{"rendered":"http:\/\/drupal.test\/projects\/developpement-dun-test-complet-de-cytogenomique-et-de-genetique-moleculaire-en-utilisant-une\/"},"modified":"2022-07-26T13:06:39","modified_gmt":"2022-07-26T17:06:39","slug":"developpement-dun-test-complet-de-cytogenomique-et-de-genetique-moleculaire-en-utilisant-une","status":"publish","type":"project","link":"https:\/\/genomecanada.ca\/fr\/project\/developpement-dun-test-complet-de-cytogenomique-et-de-genetique-moleculaire-en-utilisant-une\/","title":{"rendered":"D\u00e9veloppement d\u2019un test complet de cytog\u00e9nomique et de g\u00e9n\u00e9tique mol\u00e9culaire, en utilisant une approche combin\u00e9e de s\u00e9quen\u00e7age de l\u2019exome et de s\u00e9quen\u00e7age \u00e0 bas d\u00e9bit du g\u00e9nome entier"},"content":{"rendered":"<p>Chez l\u2019humain, la variation du nombre de copies (VNC \u2013 nombre de r\u00e9gions r\u00e9p\u00e9titives au sein du g\u00e9nome qui varie d\u2019un individu \u00e0 l\u2019autre) joue un r\u00f4le dans une gamme de maladies et de handicaps, notamment le cancer, les handicaps intellectuels et les anomalies cong\u00e9nitales. Les m\u00e9thodes actuelles de d\u00e9tection de la VNC sont co\u00fbteuses et longues. En outre, leur pr\u00e9cision et leur utilit\u00e9 cliniques sont limit\u00e9es, ce qui r\u00e9duit la probabilit\u00e9 de trouver un traitement appropri\u00e9 et fait peser un fardeau inutile sur le syst\u00e8me de soins de sant\u00e9 ainsi que sur la sant\u00e9 et le bien-\u00eatre des patients. Fulgent Genetics, \u00e9tabli \u00e0 Qu\u00e9bec, collabore avec le Dr R\u00e9gen Drouin de l\u2019Universit\u00e9 Laval afin de d\u00e9velopper un test de d\u00e9tection de la VNC plus efficace et plus rentable. Leur technologie, appel\u00e9e NOVACNV+, remplacera trois m\u00e9thodes d\u2019analyse cytog\u00e9n\u00e9tique par une technologie de nouvelle g\u00e9n\u00e9ration bas\u00e9e sur le s\u00e9quen\u00e7age. Les r\u00e9sultats permettront d\u2019am\u00e9liorer la r\u00e9solution des \u00e9preuves, la pr\u00e9cision, le rapport co\u00fbt-efficacit\u00e9 et l\u2019int\u00e9gration \u00e0 la m\u00e9decine g\u00e9nomique. L&rsquo;\u00e9quipe de recherche estime que 50\u2009000 tests NOVACNV+ pourraient remplacer environ 100\u2009000 tests requis chaque ann\u00e9e avec les m\u00e9thodes actuelles, ce qui se traduirait par des \u00e9conomies d\u2019au moins 12,5 millions de dollars par an pour le syst\u00e8me de sant\u00e9 canadien. Le d\u00e9veloppement, la validation clinique et la mise en \u0153uvre de ce test offriront un rendement du capital investi attrayant \u00e0 long terme pour l\u2019\u00e9conomie canadienne et la sant\u00e9 de la population au pays. L\u2019\u00e9tablissement d\u2019une industrie du diagnostic g\u00e9nomique clinique et commercial au Canada contribuera \u00e9galement \u00e0 placer le pays au premier plan de la m\u00e9decine g\u00e9nomique personnalis\u00e9e.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Chez l\u2019humain, la variation du nombre de copies (VNC \u2013 nombre de r\u00e9gions r\u00e9p\u00e9titives au sein du g\u00e9nome qui varie d\u2019un individu \u00e0 l\u2019autre) joue un r\u00f4le dans une gamme de maladies et de handicaps, notamment le cancer, les handicaps intellectuels et les anomalies cong\u00e9nitales. Les m\u00e9thodes actuelles de d\u00e9tection de la VNC sont co\u00fbteuses [&hellip;]<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}}},"project-categories":[92],"genome-competitions":[210],"project-sector":[],"genome_centres":[104],"class_list":["post-2560","project","type-project","status-publish","hentry","project-categories-translation-fr","genome-competitions-programme-de-partenariats-pour-les-applications-de-la-genomique","genome_centres-genome-quebec-fr"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>D\u00e9veloppement d\u2019un test complet de cytog\u00e9nomique et de g\u00e9n\u00e9tique mol\u00e9culaire, en utilisant une approche combin\u00e9e de s\u00e9quen\u00e7age de l\u2019exome et de s\u00e9quen\u00e7age \u00e0 bas d\u00e9bit du g\u00e9nome entier - GenomeCanada<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/genomecanada.ca\/fr\/project\/developpement-dun-test-complet-de-cytogenomique-et-de-genetique-moleculaire-en-utilisant-une\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"D\u00e9veloppement d\u2019un test complet de cytog\u00e9nomique et de g\u00e9n\u00e9tique mol\u00e9culaire, en utilisant une approche combin\u00e9e de s\u00e9quen\u00e7age de l\u2019exome et de s\u00e9quen\u00e7age \u00e0 bas d\u00e9bit du g\u00e9nome entier - GenomeCanada\" \/>\n<meta property=\"og:description\" content=\"Chez l\u2019humain, la variation du nombre de copies (VNC \u2013 nombre de r\u00e9gions r\u00e9p\u00e9titives au sein du g\u00e9nome qui varie d\u2019un individu \u00e0 l\u2019autre) joue un r\u00f4le dans une gamme de maladies et de handicaps, notamment le cancer, les handicaps intellectuels et les anomalies cong\u00e9nitales. 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