{"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\/sv\/2023\/09\/deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes\/","title":{"rendered":"DeepMinds AlphaMissense p\u00e5skyndar jakten p\u00e5 sjukdomsframkallande gener"},"content":{"rendered":"

Googles AI-laboratorium DeepMind har meddelat ett genombrott i identifieringen av genetiska mutationer som kan leda till sjukdomar.\u00a0<\/b><\/p>\n

Den nya AI-modellen, som g\u00e5r under namnet AlphaMissense, har kapacitet att klassificera 89% av alla m\u00f6jliga \"missense\"-varianter i m\u00e4nskliga gener, <\/span>enligt Pushmeet Kohli<\/span><\/a> fr\u00e5n Google DeepMind.\u00a0<\/span><\/p>\n

Detta inneb\u00e4r en dramatisk f\u00f6rb\u00e4ttring j\u00e4mf\u00f6rt med nuvarande metoder, som endast har klassificerat 0,1% av dessa genetiska varianter som antingen godartade eller sjukdomsframkallande.<\/span><\/p>\n

F\u00f6rst\u00e5else f\u00f6r genetiska mutationer<\/span><\/h2>\n

DNA, livets byggsten, \u00e4r uppbyggt av fyra kemiska baser: adenin (A), cytosin (C), guanin (G) och tymin (T).\u00a0<\/span><\/p>\n

Under embryonalutvecklingen avl\u00e4ses sekvensen av dessa baser f\u00f6r att producera proteiner, som \u00e4r n\u00f6dv\u00e4ndiga f\u00f6r att bilda celler och v\u00e4vnader.\u00a0<\/span><\/p>\n

Men \u00e4ven en enda felplacering i dessa sekvenser kan leda till att proteinerna inte fungerar som de ska, vilket i sin tur kan leda till sjukdom. <\/span><\/p>\n

Det \u00e4r h\u00e4r \"missense\"-mutationer kommer in i bilden - n\u00e4r en enda bas byts ut i en DNA-sekvens, vilket potentiellt kan f\u00f6r\u00e4ndra det producerade proteinet och dess funktion.<\/span><\/p>\n

Hur AlphaMissense fungerar<\/span><\/h2>\n

AlphaMissense anv\u00e4nder maskininl\u00e4rningsalgoritmer (ML) f\u00f6r att unders\u00f6ka missense-varianter, och inspekterar deras f\u00f6rekomst hos m\u00e4nniskor och n\u00e4rbesl\u00e4ktade primater. <\/span><\/p>\n

AI-modellen klassificerar sedan varianterna som antingen godartade eller sjukdomsframkallande och ger en bed\u00f6mning och ett m\u00e5tt p\u00e5 tilltron till f\u00f6ruts\u00e4gelsen.\u00a0<\/span><\/p>\n

AlphaMissense bygger vidare p\u00e5 DeepMinds tidigare arbete med AlphaFold<\/a>, som f\u00f6rra \u00e5ret dechiffrerade formen p\u00e5 n\u00e4stan alla proteiner i m\u00e4nniskokroppen.<\/span><\/p>\n

\"Forskarna kan nu fokusera sina anstr\u00e4ngningar p\u00e5 de nya omr\u00e5den som de inte k\u00e4nde till och som vi har lyft fram som potentiellt sjukdomsframkallande\", s\u00e4ger Kohli.<\/span><\/p>\n

Enligt BBC<\/span><\/a>Genomics England, i samarbete med NHS, har redan testat verktyget. NHS har en l\u00e5ngvarig relation med DeepMind, som har sitt huvudkontor i London, England.\u00a0<\/span><\/p>\n

Dr Ellen Thomas, Deputy Chief Medical Officer p\u00e5 Genomics England, s\u00e4ger: \"Det nya verktyget ger verkligen ett nytt perspektiv p\u00e5 data. Det kommer att hj\u00e4lpa kliniska forskare att f\u00f6rst\u00e5 genetiska data s\u00e5 att de blir anv\u00e4ndbara f\u00f6r patienter och f\u00f6r deras kliniska team.\"<\/span><\/p>\n

AlphaMissense f\u00f6rv\u00e4ntas p\u00e5skynda diagnosprocessen och bidra till att identifiera nya behandlingsv\u00e4gar och <\/span>kan vara s\u00e4rskilt v\u00e4rdefulla f\u00f6r att bek\u00e4mpa s\u00e4llsynta genetiska sjukdomar och tillst\u00e5nd som cystisk fibros, sicklecellanemi eller cancer.<\/span><\/p>\n

Ett av DeepMinds l\u00e5ngsiktiga uppdrag \u00e4r att till\u00e4mpa AI inom h\u00e4lso- och sjukv\u00e5rden, och AlphaMissense \u00e4r deras senaste bidrag i en imponerande portf\u00f6lj av AI-utveckling med inriktning p\u00e5 life science.\u00a0<\/span><\/p>\n

Forskningen bakom AlphaMissense har varit <\/span>publicerad i tidskriften Science<\/span><\/a>och koden har varit <\/span>publicerad p\u00e5 GitHub<\/span><\/a>. <\/span><\/p>","protected":false},"excerpt":{"rendered":"

Googles AI-laboratorium DeepMind har meddelat ett genombrott i identifieringen av genetiska mutationer som kan leda till sjukdomar. Den nya AI-modellen, som g\u00e5r under namnet AlphaMissense, har kapacitet att klassificera 89% av alla m\u00f6jliga \"missense\"-varianter i m\u00e4nskliga gener, enligt Pushmeet Kohli fr\u00e5n Google DeepMind. Detta inneb\u00e4r en dramatisk f\u00f6rb\u00e4ttring j\u00e4mf\u00f6rt med nuvarande metoder, som endast har klassificerat 0,1% av dessa genetiska varianter som antingen godartade eller sjukdomsframkallande. F\u00f6rst\u00e5else av genetiska mutationer DNA, livets byggsten, best\u00e5r av fyra kemiska baser: adenin (A), cytosin (C), guanin (G) och tymin (T). Under embryonalutvecklingen \u00e4r sekvensen av dessa 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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