{"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\/pt\/2023\/09\/deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes\/","title":{"rendered":"O AlphaMissense da DeepMind acelera a procura de genes causadores de doen\u00e7as"},"content":{"rendered":"

O laborat\u00f3rio de IA da Google, DeepMind, anunciou um avan\u00e7o na identifica\u00e7\u00e3o de muta\u00e7\u00f5es gen\u00e9ticas que podem conduzir a doen\u00e7as.\u00a0<\/b><\/p>\n

Conhecido como AlphaMissense, o novo modelo de IA tem a capacidade de classificar 89% de todas as variantes \"missense\" poss\u00edveis nos genes humanos, <\/span>de acordo com Pushmeet Kohli<\/span><\/a> do Google DeepMind.\u00a0<\/span><\/p>\n

Isto representa uma melhoria dram\u00e1tica em rela\u00e7\u00e3o aos m\u00e9todos actuais, que apenas classificaram 0,1% destas variantes gen\u00e9ticas como benignas ou causadoras de doen\u00e7a.<\/span><\/p>\n

Compreender as muta\u00e7\u00f5es gen\u00e9ticas<\/span><\/h2>\n

O ADN, o bloco de constru\u00e7\u00e3o da vida, \u00e9 composto por quatro bases qu\u00edmicas: adenina (A), citosina (C), guanina (G) e timina (T).\u00a0<\/span><\/p>\n

Durante o desenvolvimento embrion\u00e1rio, a sequ\u00eancia destas bases \u00e9 lida para produzir prote\u00ednas, que s\u00e3o essenciais para a forma\u00e7\u00e3o de c\u00e9lulas e tecidos.\u00a0<\/span><\/p>\n

No entanto, mesmo um \u00fanico erro de posicionamento nestas sequ\u00eancias pode resultar em prote\u00ednas com mau funcionamento, levando a doen\u00e7as. <\/span><\/p>\n

\u00c9 aqui que entram em jogo as muta\u00e7\u00f5es \"missense\" - quando uma \u00fanica base \u00e9 substitu\u00edda numa sequ\u00eancia de ADN, alterando potencialmente a prote\u00edna produzida e a sua fun\u00e7\u00e3o.<\/span><\/p>\n

Como funciona o AlphaMissense<\/span><\/h2>\n

O AlphaMissense aplica algoritmos de aprendizagem autom\u00e1tica (ML) para examinar variantes missense, inspeccionando a sua preval\u00eancia em humanos e em primatas estreitamente relacionados. <\/span><\/p>\n

O modelo de IA classifica ent\u00e3o as variantes como benignas ou patog\u00e9nicas, fornecendo uma avalia\u00e7\u00e3o e uma medida de confian\u00e7a na sua previs\u00e3o.\u00a0<\/span><\/p>\n

O AlphaMissense baseia-se no trabalho anterior da DeepMind com AlphaFold<\/a>que decifrou a forma de quase todas as prote\u00ednas do corpo humano no ano passado.<\/span><\/p>\n

\"Os investigadores podem agora concentrar os seus esfor\u00e7os nas novas \u00e1reas que n\u00e3o conheciam e que n\u00f3s destac\u00e1mos como potencialmente causadoras de doen\u00e7as\", disse Kohli.<\/span><\/p>\n

De acordo com a BBC<\/span><\/a>A Genomics England, em colabora\u00e7\u00e3o com o NHS, j\u00e1 testou a ferramenta. O NHS tem uma rela\u00e7\u00e3o de longa data com a DeepMind, com sede em Londres, Inglaterra.\u00a0<\/span><\/p>\n

A Dra. Ellen Thomas, directora m\u00e9dica adjunta da Genomics England, declarou: \"A nova ferramenta est\u00e1 realmente a trazer uma nova perspetiva aos dados. Ajudar\u00e1 os cientistas cl\u00ednicos a dar sentido aos dados gen\u00e9ticos, de modo a que sejam \u00fateis para os doentes e para as suas equipas cl\u00ednicas.\"<\/span><\/p>\n

Espera-se que o AlphaMissense acelere o processo de diagn\u00f3stico e ajude a identificar novas vias de tratamento e <\/span>poder\u00e1 ser particularmente valioso no tratamento de doen\u00e7as e afec\u00e7\u00f5es gen\u00e9ticas raras, como a fibrose qu\u00edstica, a anemia falciforme ou o cancro.<\/span><\/p>\n

Uma das miss\u00f5es de longa data da DeepMind \u00e9 aplicar a IA nos cuidados de sa\u00fade, e o AlphaMissense \u00e9 a sua mais recente entrada numa impressionante carteira de desenvolvimentos de IA centrados nas ci\u00eancias da vida.\u00a0<\/span><\/p>\n

A investiga\u00e7\u00e3o subjacente ao AlphaMissense tem sido <\/span>publicado na revista Science<\/span><\/a>e o c\u00f3digo foi <\/span>publicado no GitHub<\/span><\/a>. <\/span><\/p>","protected":false},"excerpt":{"rendered":"

O laborat\u00f3rio de IA da Google, DeepMind, anunciou um avan\u00e7o na identifica\u00e7\u00e3o de muta\u00e7\u00f5es gen\u00e9ticas que podem conduzir a doen\u00e7as. Conhecido como AlphaMissense, o novo modelo de IA tem a capacidade de classificar 89% de todas as poss\u00edveis variantes \"missense\" nos genes humanos, de acordo com Pushmeet Kohli do Google DeepMind. Isto representa uma melhoria significativa em rela\u00e7\u00e3o aos m\u00e9todos actuais, que apenas classificaram 0,1% destas variantes gen\u00e9ticas como benignas ou causadoras de doen\u00e7as. Compreender as muta\u00e7\u00f5es gen\u00e9ticas O ADN, o bloco de constru\u00e7\u00e3o da vida, \u00e9 composto por quatro bases qu\u00edmicas: adenina (A), citosina (C), guanina (G) e timina (T). Durante o desenvolvimento embrion\u00e1rio, a sequ\u00eancia destas bases \u00e9<\/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":"\nDeepMind's AlphaMissense accelerates the hunt for disease-causing genes | DailyAI<\/title>\n<meta name=\"description\" content=\"Google'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, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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