{"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\/es\/2023\/09\/deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes\/","title":{"rendered":"AlphaMissense de DeepMind acelera la b\u00fasqueda de genes causantes de enfermedades"},"content":{"rendered":"<p><b>El laboratorio de IA de Google, DeepMind, ha anunciado un gran avance en la identificaci\u00f3n de mutaciones gen\u00e9ticas que podr\u00edan provocar enfermedades.\u00a0<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Conocido como AlphaMissense, el nuevo modelo de IA tiene capacidad para clasificar 89% de todas las posibles variantes \"missense\" en genes humanos, <\/span><a href=\"https:\/\/www.nature.com\/articles\/d41586-023-02943-5\"><span style=\"font-weight: 400;\">seg\u00fan Pushmeet Kohli<\/span><\/a><span style=\"font-weight: 400;\"> de Google DeepMind.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Esto representa una mejora espectacular con respecto a los m\u00e9todos actuales, que s\u00f3lo han clasificado 0,1% de estas variantes gen\u00e9ticas como benignas o causantes de enfermedad.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Comprender las mutaciones gen\u00e9ticas<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">El ADN, componente b\u00e1sico de la vida, est\u00e1 compuesto por cuatro bases qu\u00edmicas: adenina (A), citosina (C), guanina (G) y timina (T).\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Durante el desarrollo embrionario, la secuencia de estas bases se lee para producir prote\u00ednas, que son esenciales para formar c\u00e9lulas y tejidos.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Sin embargo, incluso un \u00fanico error en estas secuencias puede dar lugar a un mal funcionamiento de las prote\u00ednas y provocar enfermedades. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">Aqu\u00ed es donde entran en juego las mutaciones \"sin sentido\", es decir, cuando se sustituye una sola base en una secuencia de ADN, lo que puede alterar la prote\u00edna producida y su funci\u00f3n.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">C\u00f3mo funciona AlphaMissense<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">AlphaMissense aplica algoritmos de aprendizaje autom\u00e1tico (ML) para examinar variantes missense, inspeccionando su prevalencia en humanos y primates estrechamente relacionados. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">A continuaci\u00f3n, el modelo de IA clasifica las variantes como benignas o pat\u00f3genas, proporcionando un juicio y una medida de confianza en su predicci\u00f3n.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">AlphaMissense se basa en el trabajo previo de DeepMind con <a href=\"https:\/\/dailyai.com\/es\/2023\/09\/google-turns-25-will-ai-herald-another-25-years-of-success\/\">AlphaFold<\/a>que el a\u00f1o pasado descifr\u00f3 la forma de casi todas las prote\u00ednas del cuerpo humano.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\"Los investigadores pueden ahora centrar sus esfuerzos en las nuevas \u00e1reas que desconoc\u00edan y que nosotros hemos se\u00f1alado como potencialmente causantes de enfermedades\", afirm\u00f3 Kohli.<\/span><\/p>\n<p><a href=\"https:\/\/www.bbc.co.uk\/news\/science-environment-66847977\"><span style=\"font-weight: 400;\">Seg\u00fan la BBC<\/span><\/a><span style=\"font-weight: 400;\">Genomics England, en colaboraci\u00f3n con el NHS, ya ha probado la herramienta. El NHS mantiene una larga relaci\u00f3n con DeepMind, con sede en Londres (Inglaterra).\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">La Dra. Ellen Thomas, subdirectora m\u00e9dica de Genomics England, declar\u00f3: \"La nueva herramienta aporta realmente una nueva perspectiva a los datos. Ayudar\u00e1 a los cient\u00edficos cl\u00ednicos a dar sentido a los datos gen\u00e9ticos para que sean \u00fatiles para los pacientes y para sus equipos cl\u00ednicos.\"<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Se espera que AlphaMissense agilice el proceso de diagn\u00f3stico y ayude a identificar nuevas v\u00edas de tratamiento y <\/span><span style=\"font-weight: 400;\">podr\u00eda ser especialmente valiosa para abordar trastornos y afecciones gen\u00e9ticas raras como la fibrosis qu\u00edstica, la anemia falciforme o el c\u00e1ncer.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Una de las misiones de DeepMind desde hace tiempo es aplicar la IA a la atenci\u00f3n sanitaria, y AlphaMissense es su \u00faltima incorporaci\u00f3n a una impresionante cartera de desarrollos de IA centrados en las ciencias de la vida.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">La investigaci\u00f3n en la que se basa AlphaMissense ha sido <\/span><a href=\"https:\/\/www.science.org\/doi\/10.1126\/science.adg7492\"><span style=\"font-weight: 400;\">publicado en la revista Science<\/span><\/a><span style=\"font-weight: 400;\">y el c\u00f3digo ha sido <\/span><a href=\"https:\/\/github.com\/deepmind\/alphamissense\"><span style=\"font-weight: 400;\">publicado en GitHub<\/span><\/a><span style=\"font-weight: 400;\">. <\/span><\/p>","protected":false},"excerpt":{"rendered":"<p>DeepMind, el laboratorio de inteligencia artificial de Google, ha anunciado un gran avance en la identificaci\u00f3n de mutaciones gen\u00e9ticas que podr\u00edan provocar enfermedades.  Conocido como AlphaMissense, el nuevo modelo de IA es capaz de clasificar 89% de todas las posibles variantes \"missense\" en genes humanos, seg\u00fan Pushmeet Kohli, de Google DeepMind.  Esto representa una mejora espectacular con respecto a los m\u00e9todos actuales, que solo han clasificado 0,1% de estas variantes gen\u00e9ticas como benignas o causantes de enfermedades. Entender las mutaciones gen\u00e9ticas El ADN, el componente b\u00e1sico de la vida, est\u00e1 compuesto por cuatro bases qu\u00edmicas: adenina (A), citosina (C), guanina (G) y timina (T).  Durante el desarrollo embrionario, la secuencia de estas bases es<\/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 v27.5 - 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, max-image-preview:large, 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