{"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\/nb\/2023\/09\/deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes\/","title":{"rendered":"DeepMinds AlphaMissense setter fart p\u00e5 jakten p\u00e5 sykdomsfremkallende gener"},"content":{"rendered":"

Googles AI-laboratorium, DeepMind, har kunngjort et gjennombrudd i arbeidet med \u00e5 identifisere genetiske mutasjoner som kan f\u00f8re til sykdommer.\u00a0<\/b><\/p>\n

Den nye AI-modellen, som g\u00e5r under navnet AlphaMissense, er i stand til \u00e5 klassifisere 89% av alle mulige \"missense\"-varianter i menneskelige gener, <\/span>if\u00f8lge Pushmeet Kohli<\/span><\/a> fra Google DeepMind.\u00a0<\/span><\/p>\n

Dette representerer en dramatisk forbedring i forhold til dagens metoder, som bare har klassifisert 0,1% av disse genetiske variantene som enten godartede eller sykdomsfremkallende.<\/span><\/p>\n

Forst\u00e5else av genetiske mutasjoner<\/span><\/h2>\n

DNA, livets byggestein, best\u00e5r av fire kjemiske baser: adenin (A), cytosin (C), guanin (G) og tymin (T).\u00a0<\/span><\/p>\n

Under embryonalutviklingen avleses sekvensen av disse basene for \u00e5 produsere proteiner, som er avgj\u00f8rende for \u00e5 danne celler og vev.\u00a0<\/span><\/p>\n

Men selv en enkelt feilplassering i disse sekvensene kan f\u00f8re til at proteinene ikke fungerer som de skal, noe som igjen kan f\u00f8re til sykdom. <\/span><\/p>\n

Det er her \"missense\"-mutasjoner kommer inn i bildet - n\u00e5r en enkelt base byttes ut i en DNA-sekvens, noe som potensielt kan endre det produserte proteinet og dets funksjon.<\/span><\/p>\n

Hvordan AlphaMissense fungerer<\/span><\/h2>\n

AlphaMissense bruker maskinl\u00e6ringsalgoritmer (ML) til \u00e5 unders\u00f8ke missense-varianter, og inspiserer forekomsten av disse hos mennesker og n\u00e6rt beslektede primater. <\/span><\/p>\n

AI-modellen klassifiserer deretter variantene som enten godartede eller sykdomsfremkallende, og gir en vurdering og et m\u00e5l p\u00e5 tilliten til prediksjonen.\u00a0<\/span><\/p>\n

AlphaMissense bygger p\u00e5 DeepMinds tidligere arbeid med AlphaFold<\/a>som i fjor avdekket formen p\u00e5 nesten alle proteiner i menneskekroppen.<\/span><\/p>\n

\"Forskerne kan n\u00e5 konsentrere seg om de nye omr\u00e5dene som de ikke var klar over, og som vi har pekt ut som potensielt sykdomsfremkallende\", sier Kohli.<\/span><\/p>\n

If\u00f8lge BBC<\/span><\/a>Genomics England har allerede testet verkt\u00f8yet i samarbeid med NHS. NHS har et langvarig samarbeid med DeepMind, som har hovedkontor i London, England.\u00a0<\/span><\/p>\n

Dr. Ellen Thomas, assisterende medisinsk sjef ved Genomics England, uttalte: \"Det nye verkt\u00f8yet gir virkelig et nytt perspektiv p\u00e5 dataene. Det vil hjelpe kliniske forskere med \u00e5 forst\u00e5 genetiske data slik at de blir nyttige for pasientene og de kliniske teamene deres.\"<\/span><\/p>\n

AlphaMissense forventes \u00e5 fremskynde diagnoseprosessen og bidra til \u00e5 identifisere nye behandlingsm\u00e5ter og <\/span>kan v\u00e6re spesielt verdifullt n\u00e5r det gjelder sjeldne genetiske sykdommer og tilstander som cystisk fibrose, sigdcelleanemi eller kreft.<\/span><\/p>\n

En av DeepMinds mange\u00e5rige misjoner er \u00e5 anvende AI i helsevesenet, og AlphaMissense er deres siste bidrag i en imponerende portef\u00f8lje av AI-utvikling innen biovitenskap.\u00a0<\/span><\/p>\n

Forskningen bak AlphaMissense har v\u00e6rt <\/span>publisert i tidsskriftet Science<\/span><\/a>, og koden har blitt <\/span>publisert p\u00e5 GitHub<\/span><\/a>. <\/span><\/p>","protected":false},"excerpt":{"rendered":"

Googles AI-laboratorium, DeepMind, har kunngjort et gjennombrudd n\u00e5r det gjelder \u00e5 identifisere genetiske mutasjoner som kan f\u00f8re til sykdommer. Den nye AI-modellen, som g\u00e5r under navnet AlphaMissense, er i stand til \u00e5 klassifisere 89% av alle mulige \"missense\"-varianter i menneskelige gener, if\u00f8lge Pushmeet Kohli fra Google DeepMind. Dette er en dramatisk forbedring i forhold til dagens metoder, som bare har klassifisert 0,1% av disse genetiske variantene som enten godartede eller sykdomsfremkallende. Forst\u00e5else av genetiske mutasjoner DNA, livets byggestein, best\u00e5r av fire kjemiske baser: adenin (A), cytosin (C), guanin (G) og tymin (T). Under embryoutviklingen er rekkef\u00f8lgen av disse basene<\/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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