{"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\/nl\/2023\/09\/deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes\/","title":{"rendered":"DeepMind's AlphaMissense versnelt de jacht op ziekmakende genen"},"content":{"rendered":"<p><b>Google's AI-laboratorium DeepMind heeft een doorbraak aangekondigd in het identificeren van genetische mutaties die tot ziektes kunnen leiden.\u00a0<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Het nieuwe AI-model, AlphaMissense genaamd, kan 89% van alle mogelijke missense-varianten in menselijke genen classificeren, <\/span><a href=\"https:\/\/www.nature.com\/articles\/d41586-023-02943-5\"><span style=\"font-weight: 400;\">volgens Pushmeet Kohli<\/span><\/a><span style=\"font-weight: 400;\"> van Google DeepMind.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Dit is een enorme verbetering ten opzichte van de huidige methoden, die slechts 0,1% van deze genetische varianten als goedaardig of ziekteverwekkend hebben geclassificeerd.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Genetische mutaties begrijpen<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">DNA, de bouwsteen van het leven, is opgebouwd uit vier chemische basen: adenine (A), cytosine (C), guanine (G) en thymine (T).\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Tijdens de embryonale ontwikkeling wordt de volgorde van deze basen gelezen om eiwitten te produceren, die essentieel zijn voor de vorming van cellen en weefsels.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Maar zelfs een enkele misplaatsing in deze sequenties kan resulteren in slecht functionerende eiwitten, wat leidt tot ziekte. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">Dit is waar \"missense\" mutaties om de hoek komen kijken - wanneer een enkele base in een DNA-sequentie wordt vervangen, waardoor het geproduceerde eiwit en de functie ervan kan veranderen.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Hoe AlphaMissense werkt<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">AlphaMissense past machine learning (ML)-algoritmen toe om missense-varianten te onderzoeken en hun prevalentie bij mensen en nauw verwante primaten te inspecteren. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">Het AI-model classificeert de varianten vervolgens als goedaardig of pathogeen en geeft een oordeel en een mate van vertrouwen in de voorspelling.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">AlphaMissense bouwt voort op DeepMind's eerdere werk met <a href=\"https:\/\/dailyai.com\/nl\/2023\/09\/google-turns-25-will-ai-herald-another-25-years-of-success\/\">AlphaFold<\/a>die vorig jaar de vorm van bijna alle eiwitten in het menselijk lichaam heeft ontcijferd.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\"Onderzoekers kunnen hun inspanningen nu richten op de nieuwe gebieden waar ze zich niet bewust van waren en die wij hebben gemarkeerd als mogelijk ziekteveroorzakend,\" zei Kohli.<\/span><\/p>\n<p><a href=\"https:\/\/www.bbc.co.uk\/news\/science-environment-66847977\"><span style=\"font-weight: 400;\">Volgens de BBC<\/span><\/a><span style=\"font-weight: 400;\">Genomics England, in samenwerking met de NHS, heeft de tool al getest. De NHS heeft een langdurige relatie met DeepMind, dat zijn hoofdkantoor heeft in Londen, Engeland.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Dr. Ellen Thomas, plaatsvervangend hoofd medische zaken bij Genomics England, verklaarde: \"Het nieuwe hulpmiddel biedt echt een nieuw perspectief op de gegevens. Het zal klinische wetenschappers helpen om genetische gegevens te begrijpen, zodat ze nuttig zijn voor pati\u00ebnten en hun klinische teams.\"<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Verwacht wordt dat AlphaMissense het diagnoseproces zal versnellen en zal helpen bij het identificeren van nieuwe behandeltrajecten en <\/span><span style=\"font-weight: 400;\">zou met name waardevol kunnen zijn bij de aanpak van zeldzame genetische aandoeningen zoals taaislijmziekte, sikkelcelanemie of kanker.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Een van DeepMind's lang bestaande missies is om AI toe te passen in de gezondheidszorg, en AlphaMissense is hun nieuwste aanwinst in een indrukwekkend portfolio van biowetenschappelijke AI-ontwikkelingen.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Het onderzoek achter AlphaMissense is <\/span><a href=\"https:\/\/www.science.org\/doi\/10.1126\/science.adg7492\"><span style=\"font-weight: 400;\">gepubliceerd in het tijdschrift Science<\/span><\/a><span style=\"font-weight: 400;\">en de code is <\/span><a href=\"https:\/\/github.com\/deepmind\/alphamissense\"><span style=\"font-weight: 400;\">gepubliceerd op GitHub<\/span><\/a><span style=\"font-weight: 400;\">. <\/span><\/p>","protected":false},"excerpt":{"rendered":"<p>Google's AI-laboratorium DeepMind heeft een doorbraak aangekondigd in het identificeren van genetische mutaties die kunnen leiden tot ziekten.  Het nieuwe AI-model, AlphaMissense genaamd, kan volgens Pushmeet Kohli van Google DeepMind 89% van alle mogelijke \"missense\" varianten in menselijke genen classificeren.  Dit is een enorme verbetering ten opzichte van de huidige methoden, die slechts 0,1% van deze genetische varianten hebben geclassificeerd als goedaardig of ziekteverwekkend. Inzicht in genetische mutaties DNA, de bouwsteen van het leven, is opgebouwd uit vier chemische basen: adenine (A), cytosine (C), guanine (G) en thymine (T).  Tijdens de embryonale ontwikkeling is de volgorde van deze basen<\/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 v27.4 - 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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