{"id":4782,"date":"2025-03-04T21:57:00","date_gmt":"2025-03-04T20:57:00","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/le-premier-test-de-sequencage-darn-clinique-promet-un-diagnostic-genetique-ameliore\/"},"modified":"2025-03-04T21:57:01","modified_gmt":"2025-03-04T20:57:01","slug":"le-premier-test-de-sequencage-darn-clinique-promet-un-diagnostic-genetique-ameliore","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/le-premier-test-de-sequencage-darn-clinique-promet-un-diagnostic-genetique-ameliore\/","title":{"rendered":"Le premier test de s\u00e9quen\u00e7age d&rsquo;ARN clinique promet un diagnostic g\u00e9n\u00e9tique am\u00e9lior\u00e9"},"content":{"rendered":"<div>\n<div class=\"article-gallery lightGallery\">\n<div data-thumb=\"https:\/\/scx1.b-cdn.net\/csz\/news\/tmb\/2025\/baylor-researchers-dev.jpg\" data-src=\"https:\/\/scx2.b-cdn.net\/gfx\/news\/2025\/baylor-researchers-dev.jpg\" data-sub-html=\"Credit: &lt;i&gt;The American Journal of Human Genetics&lt;\/i&gt; (2025). DOI: 10.1016\/j.ajhg.2025.02.006\">\n<figure class=\"article-img\">\n<\/figure><\/div>\n<\/div>\n<p>Le s\u00e9quen\u00e7age de l&rsquo;ARN est apparu comme un suppl\u00e9ment puissant du s\u00e9quen\u00e7age de l&rsquo;ADN pour le diagnostic de la maladie mend\u00e9lienne, mais la traduction clinique de l&rsquo;ARN-seq diagnostique n&rsquo;a pas \u00e9t\u00e9 largement atteinte. Des chercheurs du laboratoire de g\u00e9n\u00e9tique m\u00e9dicale et multioomique du Baylor College of Medicine ont publi\u00e9 la validation clinique du premier test de s\u00e9quen\u00e7age d&rsquo;ARN pour l&rsquo;analyse diagnostique du transcriptome entier pour les troubles g\u00e9n\u00e9tiques.<\/p>\n<p>Les r\u00e9sultats, qui apparaissent dans <i>The American Journal of Human Genetics<\/i>\u00e9tablir un pipeline de s\u00e9quen\u00e7age de transcriptome complet \u00e0 usage clinique, \u00e9largissant le r\u00f4le du s\u00e9quen\u00e7age d&rsquo;ARN au-del\u00e0 de l&rsquo;analyse cibl\u00e9e.<\/p>\n<p>\u00ab\u00a0Cette validation repr\u00e9sente la premi\u00e8re tentative de lib\u00e9rer le potentiel de transcriptome complet du s\u00e9quen\u00e7age de l&rsquo;ARN pour les diagnostics cliniques\u00a0\u00bb, a d\u00e9clar\u00e9 l&rsquo;auteur correspondant, le Dr Pengfei Liu, professeur agr\u00e9g\u00e9 de g\u00e9n\u00e9tique mol\u00e9culaire et humaine et directeur du laboratoire m\u00e9dical g\u00e9n\u00e9tique et multiomique (MGML) \u00e0 Baylor. \u00ab\u00a0Bien que le s\u00e9quen\u00e7age de l&rsquo;ARN ait \u00e9t\u00e9 utilis\u00e9 dans les tests cliniques, il a \u00e9t\u00e9 limit\u00e9 \u00e0 l&rsquo;analyse des g\u00e8nes cibl\u00e9e. En fait, lorsque nous avons demand\u00e9 l&rsquo;accr\u00e9ditation du CAP (Coll\u00e8ge des pathologistes am\u00e9ricains), nous avons travaill\u00e9 avec eux pour cr\u00e9er la premi\u00e8re activit\u00e9 de s\u00e9quen\u00e7age en transcriptome enti\u00e8rement en tant que test.\u00a0\u00bb<\/p>\n<p>Le test RNA-Seq utilise des \u00e9chantillons \u00e0 partir de fibroblastes ou de sang et d&rsquo;analyses pour les valeurs aberrantes dans l&rsquo;expression des g\u00e8nes et les mod\u00e8les d&rsquo;\u00e9pissage. Les chercheurs ont valid\u00e9 le test en utilisant 130 \u00e9chantillons, dont 40 \u00e9chantillons avec un diagnostic mol\u00e9culaire positif et 90 \u00e9chantillons n\u00e9gatifs de personnes apparemment en bonne sant\u00e9 pour le contr\u00f4le. Ils ont d\u00e9velopp\u00e9 des rep\u00e8res pour l&rsquo;expression et l&rsquo;\u00e9pissage en utilisant des donn\u00e9es RNA-Seq \u00e0 partir d&rsquo;un \u00e9chantillon lymphoblasto\u00efde dans le g\u00e9nome accessible au public dans un consortium de bouteilles. L&rsquo;\u00e9quipe a \u00e9tabli des plages de r\u00e9f\u00e9rence pour chaque g\u00e8ne en fonction des donn\u00e9es de contr\u00f4le.<\/p>\n<p>Pour \u00e9valuer les performances cliniques, l&rsquo;\u00e9quipe a \u00e9valu\u00e9 le test en utilisant des \u00e9chantillons avec des r\u00e9sultats de diagnostic pr\u00e9c\u00e9demment identifi\u00e9s du r\u00e9seau de maladies non diagnostiqu\u00e9 (UDN). L&rsquo;\u00e9tude a confirm\u00e9 la capacit\u00e9 du test \u00e0 d\u00e9tecter les r\u00e9sultats de l&rsquo;ARN diagnostique \u00e0 travers les modes d&rsquo;analyse ax\u00e9s sur le transcriptome et \u00e0 ADN, d\u00e9montrant son potentiel pour am\u00e9liorer le diagnostic mol\u00e9culaire.<\/p>\n<p>Ce test est le premier lanc\u00e9 par le MGML et est maintenant propos\u00e9 pour le s\u00e9quen\u00e7age clinique de l&rsquo;ARN dans l&rsquo;UDN.<\/p>\n<p>                                        <!-- print only --><\/p><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Le s\u00e9quen\u00e7age de l&rsquo;ARN est apparu comme un suppl\u00e9ment puissant du s\u00e9quen\u00e7age de l&rsquo;ADN pour<\/p>\n","protected":false},"author":1,"featured_media":4783,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[1378,733,2468,1391,944,322,4319,490,1390],"class_list":["post-4782","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-ameliore","tag-clinique","tag-darn","tag-diagnostic","tag-genetique","tag-premier","tag-promet","tag-sequencage","tag-test","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.4 - 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