{"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\/da\/2023\/09\/deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes\/","title":{"rendered":"DeepMinds AlphaMissense fremskynder jagten p\u00e5 sygdomsfremkaldende gener"},"content":{"rendered":"

Googles AI-laboratorium, DeepMind, har annonceret et gennembrud i identifikationen af genetiske mutationer, der kan f\u00f8re til sygdomme.\u00a0<\/b><\/p>\n

Den nye AI-model er kendt som AlphaMissense og har evnen til at klassificere 89% af alle mulige \"missense\"-varianter i menneskelige gener, <\/span>if\u00f8lge Pushmeet Kohli<\/span><\/a> fra Google DeepMind.\u00a0<\/span><\/p>\n

Det er en dramatisk forbedring i forhold til de nuv\u00e6rende metoder, som kun har klassificeret 0,1% af disse genetiske varianter som enten godartede eller sygdomsfremkaldende.<\/span><\/p>\n

Forst\u00e5else af genetiske mutationer<\/span><\/h2>\n

DNA, livets byggesten, best\u00e5r af fire kemiske baser: adenin (A), cytosin (C), guanin (G) og thymin (T).\u00a0<\/span><\/p>\n

Under embryonaludviklingen afl\u00e6ses sekvensen af disse baser for at producere proteiner, som er afg\u00f8rende for dannelsen af celler og v\u00e6v.\u00a0<\/span><\/p>\n

Men selv en enkelt fejlplacering i disse sekvenser kan resultere i d\u00e5rligt fungerende proteiner og f\u00f8re til sygdom. <\/span><\/p>\n

Det er her, \"missense\"-mutationer kommer ind i billedet - n\u00e5r en enkelt base udskiftes i en DNA-sekvens, hvilket potentielt kan \u00e6ndre det producerede protein og dets funktion.<\/span><\/p>\n

S\u00e5dan virker AlphaMissense<\/span><\/h2>\n

AlphaMissense anvender maskinl\u00e6ringsalgoritmer (ML) til at unders\u00f8ge missense-varianter og inspicere deres udbredelse hos mennesker og n\u00e6rt besl\u00e6gtede primater. <\/span><\/p>\n

AI-modellen klassificerer derefter varianterne som enten godartede eller sygdomsfremkaldende og giver en vurdering og et m\u00e5l for tilliden til dens forudsigelse.\u00a0<\/span><\/p>\n

AlphaMissense bygger p\u00e5 DeepMinds tidligere arbejde med AlphaFold<\/a>som dechifrerede formen p\u00e5 n\u00e6sten alle proteiner i menneskekroppen sidste \u00e5r.<\/span><\/p>\n

\"Forskerne kan nu fokusere deres indsats p\u00e5 de nye omr\u00e5der, som de ikke var opm\u00e6rksomme p\u00e5, og som vi har fremh\u00e6vet som potentielt sygdomsfremkaldende\", siger Kohli.<\/span><\/p>\n

Det skriver BBC.<\/span><\/a>Genomics England har i samarbejde med NHS allerede testet v\u00e6rkt\u00f8jet. NHS har et mange\u00e5rigt samarbejde med DeepMind, der har hovedkvarter i London, England.\u00a0<\/span><\/p>\n

Dr. Ellen Thomas, vicedirekt\u00f8r for Genomics England, sagde: \"Det nye v\u00e6rkt\u00f8j giver virkelig et nyt perspektiv p\u00e5 dataene. Det vil hj\u00e6lpe kliniske forskere med at forst\u00e5 genetiske data, s\u00e5 de er nyttige for patienterne og deres kliniske teams.\"<\/span><\/p>\n

AlphaMissense forventes at fremskynde diagnoseprocessen og hj\u00e6lpe med at identificere nye behandlingsmetoder og <\/span>kan v\u00e6re s\u00e6rligt v\u00e6rdifulde i forbindelse med sj\u00e6ldne genetiske sygdomme og tilstande som cystisk fibrose, seglcellean\u00e6mi eller kr\u00e6ft.<\/span><\/p>\n

En af DeepMinds mange\u00e5rige missioner er at anvende AI i sundhedssektoren, og AlphaMissense er deres seneste bidrag til en imponerende portef\u00f8lje af AI-udviklinger med fokus p\u00e5 biovidenskab.\u00a0<\/span><\/p>\n

Forskningen bag AlphaMissense har v\u00e6ret <\/span>offentliggjort i tidsskriftet Science<\/span><\/a>, og koden er blevet <\/span>udgivet p\u00e5 GitHub<\/span><\/a>. <\/span><\/p>","protected":false},"excerpt":{"rendered":"

Googles AI-laboratorium, DeepMind, har annonceret et gennembrud i identifikationen af genetiske mutationer, der kan f\u00f8re til sygdomme. Den nye AI-model er kendt som AlphaMissense og er i stand til at klassificere 89% af alle mulige \"missense\"-varianter i menneskelige gener, if\u00f8lge Pushmeet Kohli fra Google DeepMind. Det er en dramatisk forbedring i forhold til de nuv\u00e6rende metoder, som kun har klassificeret 0,1% af disse genetiske varianter som enten godartede eller sygdomsfremkaldende. Forst\u00e5else af genetiske mutationer DNA, livets byggesten, best\u00e5r af fire kemiske baser: adenin (A), cytosin (C), guanin (G) og thymin (T). Under den embryonale udvikling er r\u00e6kkef\u00f8lgen af disse baser<\/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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