{"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\/de\/2023\/09\/deepminds-alphamissense-accelerates-the-hunt-for-disease-causing-genes\/","title":{"rendered":"DeepMinds AlphaMissense beschleunigt die Jagd nach krankheitsverursachenden Genen"},"content":{"rendered":"<p><b>Googles KI-Labor DeepMind hat einen Durchbruch bei der Identifizierung von genetischen Mutationen, die zu Krankheiten f\u00fchren k\u00f6nnten, bekannt gegeben.\u00a0<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Das neue KI-Modell mit dem Namen AlphaMissense ist in der Lage, 89% aller m\u00f6glichen \"Missense\"-Varianten in menschlichen Genen zu klassifizieren, <\/span><a href=\"https:\/\/www.nature.com\/articles\/d41586-023-02943-5\"><span style=\"font-weight: 400;\">laut Pushmeet Kohli<\/span><\/a><span style=\"font-weight: 400;\"> von Google DeepMind.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Dies stellt eine dramatische Verbesserung gegen\u00fcber den derzeitigen Methoden dar, mit denen nur 0,1% dieser genetischen Varianten als gutartig oder krankheitsverursachend eingestuft werden konnten.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Genetische Mutationen verstehen<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Die DNA, der Baustein des Lebens, besteht aus vier chemischen Basen: Adenin (A), Cytosin (C), Guanin (G) und Thymin (T).\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">W\u00e4hrend der Embryonalentwicklung wird die Sequenz dieser Basen abgelesen, um Proteine herzustellen, die f\u00fcr die Bildung von Zellen und Geweben unerl\u00e4sslich sind.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Doch schon ein einziger Fehler in diesen Sequenzen kann zu einer Fehlfunktion der Proteine und damit zu einer Krankheit f\u00fchren. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">Hier kommen \"Missense\"-Mutationen ins Spiel, bei denen eine einzelne Base in einer DNA-Sequenz ausgetauscht wird, wodurch das produzierte Protein und seine Funktion ver\u00e4ndert werden k\u00f6nnen.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Wie AlphaMissense funktioniert<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">AlphaMissense wendet Algorithmen des maschinellen Lernens (ML) an, um Missense-Varianten zu untersuchen und ihre Pr\u00e4valenz bei Menschen und eng verwandten Primaten zu \u00fcberpr\u00fcfen. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">Das KI-Modell stuft die Varianten dann als gutartig oder pathogen ein und gibt ein Urteil und ein Ma\u00df f\u00fcr das Vertrauen in seine Vorhersage ab.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">AlphaMissense st\u00fctzt sich auf DeepMinds fr\u00fchere Arbeit mit <a href=\"https:\/\/dailyai.com\/de\/2023\/09\/google-turns-25-will-ai-herald-another-25-years-of-success\/\">AlphaFold<\/a>die im vergangenen Jahr die Form fast aller Proteine im menschlichen K\u00f6rper entschl\u00fcsselt hat.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\"Die Forscher k\u00f6nnen sich nun auf die neuen Bereiche konzentrieren, die sie nicht kannten und die wir als potenziell krankheitsverursachend identifiziert haben\", so Kohli.<\/span><\/p>\n<p><a href=\"https:\/\/www.bbc.co.uk\/news\/science-environment-66847977\"><span style=\"font-weight: 400;\">Nach Angaben der BBC<\/span><\/a><span style=\"font-weight: 400;\">Genomics England hat das Tool in Zusammenarbeit mit dem NHS bereits getestet. Der NHS unterh\u00e4lt eine langj\u00e4hrige Beziehung zu DeepMind, dessen Hauptsitz sich in London, England, befindet.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Dr. Ellen Thomas, die stellvertretende medizinische Leiterin von Genomics England, erkl\u00e4rte: \"Das neue Tool bringt wirklich eine neue Perspektive auf die Daten. Es wird klinischen Wissenschaftlern helfen, genetische Daten sinnvoll zu nutzen, so dass sie f\u00fcr Patienten und ihre klinischen Teams n\u00fctzlich sind.\"<\/span><\/p>\n<p><span style=\"font-weight: 400;\">AlphaMissense soll den Diagnoseprozess beschleunigen und dabei helfen, neue Behandlungswege zu finden und <\/span><span style=\"font-weight: 400;\">k\u00f6nnte besonders wertvoll sein, um seltene genetische St\u00f6rungen und Krankheiten wie Mukoviszidose, Sichelzellenan\u00e4mie oder Krebs zu bek\u00e4mpfen.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Eine der langj\u00e4hrigen Missionen von DeepMind ist die Anwendung von KI im Gesundheitswesen, und AlphaMissense ist der j\u00fcngste Eintrag in einem beeindruckenden Portfolio von KI-Entwicklungen mit Schwerpunkt auf den Biowissenschaften.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Die Forschung, die hinter AlphaMissense steht, war <\/span><a href=\"https:\/\/www.science.org\/doi\/10.1126\/science.adg7492\"><span style=\"font-weight: 400;\">ver\u00f6ffentlicht in der Zeitschrift Science<\/span><\/a><span style=\"font-weight: 400;\">und der Code wurde <\/span><a href=\"https:\/\/github.com\/deepmind\/alphamissense\"><span style=\"font-weight: 400;\">ver\u00f6ffentlicht auf GitHub<\/span><\/a><span style=\"font-weight: 400;\">. <\/span><\/p>","protected":false},"excerpt":{"rendered":"<p>Googles KI-Labor DeepMind hat einen Durchbruch bei der Identifizierung von genetischen Mutationen, die zu Krankheiten f\u00fchren k\u00f6nnten, bekannt gegeben.  Das neue KI-Modell mit der Bezeichnung AlphaMissense ist laut Pushmeet Kohli von Google DeepMind in der Lage, 89% aller m\u00f6glichen \"Missense\"-Varianten in menschlichen Genen zu klassifizieren.  Dies stellt eine dramatische Verbesserung gegen\u00fcber den derzeitigen Methoden dar, die nur 0,1% dieser genetischen Varianten als gutartig oder krankheitsverursachend einstufen konnten. Das Verst\u00e4ndnis genetischer Mutationen Die DNA, der Baustein des Lebens, besteht aus vier chemischen Basen: Adenin (A), Cytosin (C), Guanin (G) und Thymin (T).  W\u00e4hrend der Embryonalentwicklung ist die Reihenfolge dieser 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, 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