{"id":5646,"date":"2023-09-19T19:19:03","date_gmt":"2023-09-19T19:19:03","guid":{"rendered":"https:\/\/dailyai.com\/?p=5646"},"modified":"2023-09-19T19:56:09","modified_gmt":"2023-09-19T19:56:09","slug":"deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes","status":"publish","type":"post","link":"https:\/\/dailyai.com\/fr\/2023\/09\/deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes\/","title":{"rendered":"AlphaMissense de DeepMind acc\u00e9l\u00e8re la recherche de g\u00e8nes responsables de maladies"},"content":{"rendered":"<p><b>DeepMind, le laboratoire d'IA de Google, a annonc\u00e9 une perc\u00e9e dans l'identification des mutations g\u00e9n\u00e9tiques susceptibles d'entra\u00eener des maladies.\u00a0<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Baptis\u00e9 AlphaMissense, le nouveau mod\u00e8le d'IA est capable de classer 89% de toutes les variantes \"faux-sens\" possibles dans les g\u00e8nes humains, <\/span><a href=\"https:\/\/www.nature.com\/articles\/d41586-023-02943-5\"><span style=\"font-weight: 400;\">selon Pushmeet Kohli<\/span><\/a><span style=\"font-weight: 400;\"> de Google DeepMind.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Cela repr\u00e9sente une am\u00e9lioration consid\u00e9rable par rapport aux m\u00e9thodes actuelles, qui n'ont permis de classer que 0,1% de ces variantes g\u00e9n\u00e9tiques comme \u00e9tant b\u00e9nignes ou pathog\u00e8nes.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Comprendre les mutations g\u00e9n\u00e9tiques<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">L'ADN, \u00e9l\u00e9ment constitutif de la vie, est compos\u00e9 de quatre bases chimiques : l'ad\u00e9nine (A), la cytosine (C), la guanine (G) et la thymine (T).\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Au cours du d\u00e9veloppement embryonnaire, la s\u00e9quence de ces bases est lue pour produire des prot\u00e9ines, qui sont essentielles \u00e0 la formation des cellules et des tissus.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Cependant, une seule erreur dans ces s\u00e9quences peut entra\u00eener un mauvais fonctionnement des prot\u00e9ines, et donc une maladie. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">C'est l\u00e0 qu'interviennent les mutations \"faux-sens\", c'est-\u00e0-dire la substitution d'une seule base dans une s\u00e9quence d'ADN, ce qui peut modifier la prot\u00e9ine produite et sa fonction.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Comment fonctionne AlphaMissense<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">AlphaMissense applique des algorithmes d'apprentissage automatique pour examiner les variants faux-sens, en v\u00e9rifiant leur pr\u00e9valence chez l'homme et les primates proches. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">Le mod\u00e8le d'IA classe ensuite les variantes comme b\u00e9nignes ou pathog\u00e8nes, en fournissant un jugement et une mesure de confiance dans sa pr\u00e9diction.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">AlphaMissense s'appuie sur les travaux ant\u00e9rieurs de DeepMind dans le domaine du <a href=\"https:\/\/dailyai.com\/fr\/2023\/09\/google-turns-25-will-ai-herald-another-25-years-of-success\/\">AlphaFold<\/a>qui a d\u00e9crypt\u00e9 la forme de presque toutes les prot\u00e9ines du corps humain l'ann\u00e9e derni\u00e8re.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\"Les chercheurs peuvent d\u00e9sormais concentrer leurs efforts sur les nouveaux domaines dont ils n'avaient pas connaissance et que nous avons mis en \u00e9vidence comme pouvant \u00eatre \u00e0 l'origine de maladies\", a d\u00e9clar\u00e9 M. Kohli.<\/span><\/p>\n<p><a href=\"https:\/\/www.bbc.co.uk\/news\/science-environment-66847977\"><span style=\"font-weight: 400;\">Selon la BBC<\/span><\/a><span style=\"font-weight: 400;\">L'outil a d\u00e9j\u00e0 \u00e9t\u00e9 test\u00e9 par Genomics England, en collaboration avec le NHS. Le NHS entretient une relation de longue date avec DeepMind, dont le si\u00e8ge se trouve \u00e0 Londres, en Angleterre.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Le Dr Ellen Thomas, m\u00e9decin-chef adjoint de Genomics England, a d\u00e9clar\u00e9 : \"Ce nouvel outil apporte vraiment une nouvelle perspective aux donn\u00e9es. Il aidera les scientifiques cliniques \u00e0 donner un sens aux donn\u00e9es g\u00e9n\u00e9tiques afin qu'elles soient utiles aux patients et \u00e0 leurs \u00e9quipes cliniques\".<\/span><\/p>\n<p><span style=\"font-weight: 400;\">AlphaMissense devrait permettre d'acc\u00e9l\u00e9rer le processus de diagnostic et de contribuer \u00e0 l'identification de nouvelles voies de traitement et de nouveaux m\u00e9dicaments. <\/span><span style=\"font-weight: 400;\">pourrait \u00eatre particuli\u00e8rement utile pour lutter contre des maladies g\u00e9n\u00e9tiques rares telles que la mucoviscidose, la dr\u00e9panocytose ou le cancer.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">L'une des missions de longue date de DeepMind est d'appliquer l'IA aux soins de sant\u00e9, et AlphaMissense est le dernier-n\u00e9 d'un portefeuille impressionnant de d\u00e9veloppements d'IA centr\u00e9s sur les sciences de la vie.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">La recherche derri\u00e8re AlphaMissense a \u00e9t\u00e9 <\/span><a href=\"https:\/\/www.science.org\/doi\/10.1126\/science.adg7492\"><span style=\"font-weight: 400;\">publi\u00e9e dans la revue Science<\/span><\/a><span style=\"font-weight: 400;\">et le code a \u00e9t\u00e9 <\/span><a href=\"https:\/\/github.com\/deepmind\/alphamissense\"><span style=\"font-weight: 400;\">publi\u00e9 sur GitHub<\/span><\/a><span style=\"font-weight: 400;\">. <\/span><\/p>","protected":false},"excerpt":{"rendered":"<p>DeepMind, le laboratoire d'IA de Google, a annonc\u00e9 une perc\u00e9e dans l'identification des mutations g\u00e9n\u00e9tiques susceptibles d'entra\u00eener des maladies.  Baptis\u00e9 AlphaMissense, le nouveau mod\u00e8le d'IA est capable de classer 89% de toutes les variantes \"faux-sens\" possibles dans les g\u00e8nes humains, selon Pushmeet Kohli de Google DeepMind.  Il s'agit d'une am\u00e9lioration consid\u00e9rable par rapport aux m\u00e9thodes actuelles, qui n'ont permis de classer que 0,1% de ces variantes g\u00e9n\u00e9tiques comme \u00e9tant b\u00e9nignes ou pathog\u00e8nes. Comprendre les mutations g\u00e9n\u00e9tiques L'ADN, l'\u00e9l\u00e9ment constitutif de la vie, est compos\u00e9 de quatre bases chimiques : l'ad\u00e9nine (A), la cytosine (C), la guanine (G) et la thymine (T).  Au cours du d\u00e9veloppement embryonnaire, la s\u00e9quence de ces bases est<\/p>","protected":false},"author":2,"featured_media":5647,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[84],"tags":[203,147,102,204,101],"class_list":["post-5646","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-industry","tag-biotech","tag-deepmind","tag-google","tag-healthcare","tag-medtech"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>DeepMind&#039;s AlphaMissense accelerates the hunt for disease-causing genes | DailyAI<\/title>\n<meta name=\"description\" content=\"Google&#039;s AI laboratory, DeepMind, has announced a breakthrough in identifying genetic mutations that could lead to diseases.\u00a0\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, 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