{"id":11016,"date":"2020-03-02T17:51:36","date_gmt":"2020-03-02T17:51:36","guid":{"rendered":"http:\/\/drupal.test\/projects\/au-dela-de-la-genomique-evaluation-de-lamelioration-du-diagnostic-des-maladies-rares-laide-de\/"},"modified":"2022-07-26T13:19:28","modified_gmt":"2022-07-26T17:19:28","slug":"au-dela-de-la-genomique-evaluation-de-lamelioration-du-diagnostic-des-maladies-rares-laide-de","status":"publish","type":"project","link":"https:\/\/genomecanada.ca\/fr\/project\/au-dela-de-la-genomique-evaluation-de-lamelioration-du-diagnostic-des-maladies-rares-laide-de\/","title":{"rendered":"Au-del\u00e0 de la g\u00e9nomique : \u00c9valuation de l\u2019am\u00e9lioration du diagnostic des maladies rares \u00e0 l\u2019aide de l\u2019\u00e9pig\u00e9nomique clinique (EpiSign-CAN)"},"content":{"rendered":"<p>Ce projet permettra de valider un test, nomm\u00e9 EpiSign, un algorithme d\u2019apprentissage machine exclusif fond\u00e9 sur des ensembles de donn\u00e9es sur les maladies g\u00e9n\u00e9tiques rares (base de connaissances EpiSign), qui analyse les donn\u00e9es obtenues \u00e0 partir de s\u00e9ries de m\u00e9thylation du g\u00e9nome entier. Cette approche devrait donner un rendement diagnostique sup\u00e9rieur \u00e0 celui des analyses g\u00e9n\u00e9tiques. Ce projet validera les conditions permettant de maximiser l\u2019incidence sur les patients et le syst\u00e8me de sant\u00e9 et \u00e9valuera les donn\u00e9es probantes se rapportant aux sc\u00e9narios de premi\u00e8re consultation et de r\u00e9flexe pour l\u2019adoption du d\u00e9pistage de m\u00e9thylation de l\u2019ADN pang\u00e9nomique au Canada. Dans le cadre d\u2019une adoption clinique, EpiSign serait mis en \u0153uvre comme un service de bio-informatique, et les centres de g\u00e9n\u00e9tique tertiaires travailleraient avec les patients et se chargeraient de la production de donn\u00e9es des s\u00e9ries de m\u00e9thylation en laboratoire humide \u00e0 l\u2019\u00e9chelle locale. Ces centres utiliseraient ensuite un portail Web s\u00e9curis\u00e9 pour l\u2019interpr\u00e9tation de leurs donn\u00e9es par la base de connaissances EpiSign. Les avantages attendus pour le Canada comprennent une meilleure qualit\u00e9 de vie pour les patients et les familles qui recevront un diagnostic d\u00e9finitif attendu depuis longtemps. Le fait de fournir plus t\u00f4t un diagnostic aux patients sera avantageux sur le plan \u00e9conomique, car de nombreux tests seront \u00e9vit\u00e9s, et on comptera moins sur les laboratoires commerciaux en dehors du pays.<\/p>\n<p><strong>Dans les m\u00e9dias\u00a0:<\/strong><\/p>\n<ul>\n<li><a href=\"https:\/\/lfpress.com\/news\/local-news\/lawson-team-wins-4-8m-to-test-made-in-london-genetic-disease-screening-tool\" target=\"_blank\" rel=\"noopener\">Lawson team wins $4.8M to test made-in-London genetic disease screening tool<\/a>, London Free Press, 2 mars 2020<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Ce projet permettra de valider un test, nomm\u00e9 EpiSign, un algorithme d\u2019apprentissage machine exclusif fond\u00e9 sur des ensembles de donn\u00e9es sur les maladies g\u00e9n\u00e9tiques rares (base de connaissances EpiSign), qui analyse les donn\u00e9es obtenues \u00e0 partir de s\u00e9ries de m\u00e9thylation du g\u00e9nome entier. Cette approche devrait donner un rendement diagnostique sup\u00e9rieur \u00e0 celui des analyses [&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":[108],"class_list":["post-11016","project","type-project","status-publish","hentry","project-categories-translation-fr","genome-competitions-programme-de-partenariats-pour-les-applications-de-la-genomique","genome_centres-ontario-genomics-fr"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Au-del\u00e0 de la g\u00e9nomique : \u00c9valuation de l\u2019am\u00e9lioration du diagnostic des maladies rares \u00e0 l\u2019aide de l\u2019\u00e9pig\u00e9nomique clinique (EpiSign-CAN) - 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\/au-dela-de-la-genomique-evaluation-de-lamelioration-du-diagnostic-des-maladies-rares-laide-de\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Au-del\u00e0 de la g\u00e9nomique : \u00c9valuation de l\u2019am\u00e9lioration du diagnostic des maladies rares \u00e0 l\u2019aide de l\u2019\u00e9pig\u00e9nomique clinique (EpiSign-CAN) - GenomeCanada\" \/>\n<meta property=\"og:description\" content=\"Ce projet permettra de valider un test, nomm\u00e9 EpiSign, un algorithme d\u2019apprentissage machine exclusif fond\u00e9 sur des ensembles de donn\u00e9es sur les maladies g\u00e9n\u00e9tiques rares (base de connaissances EpiSign), qui analyse les donn\u00e9es obtenues \u00e0 partir de s\u00e9ries de m\u00e9thylation du g\u00e9nome entier. 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