{"id":2401,"date":"2018-11-12T00:00:00","date_gmt":"2018-11-12T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2401"},"modified":"2018-11-12T00:00:00","modified_gmt":"2018-11-12T00:00:00","slug":"atualizacoes-do-centomdr-o-maior-banco-de-dados-mundial-de-mutacoes-geneticas-de-doencas-raras","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/updates-to-centomdr-worlds-largest-genetic-mutation-database-of-rare-diseases\/","title":{"rendered":"Atualiza\u00e7\u00f5es do CentoMD\u00ae, o maior banco de dados de muta\u00e7\u00f5es gen\u00e9ticas de doen\u00e7as raras do mundo."},"content":{"rendered":"<p>A CENTOGENE anunciou hoje atualiza\u00e7\u00f5es para <a href=\"https:\/\/www.centogene.com\/pt\/digital-solutions\/mutation-database-centomd.html\/\" target=\"_blank\" title=\"Saiba mais sobre CentoMD\">CentoMD\u00ae<\/a>, O maior banco de dados de muta\u00e7\u00f5es gen\u00e9ticas de doen\u00e7as raras do mundo. A vers\u00e3o mais recente preenche ainda mais a lacuna cr\u00edtica entre variantes gen\u00e9ticas e interpreta\u00e7\u00e3o cl\u00ednica, combinando informa\u00e7\u00f5es gen\u00e9ticas cl\u00ednicas precisas e biomarcadores. O conhecimento e os dados rec\u00e9m-gerados agora se baseiam em variantes causadoras de doen\u00e7as confirmadas por dados de biomarcadores. Essa combina\u00e7\u00e3o exclusiva padroniza e agiliza a interpreta\u00e7\u00e3o m\u00e9dica dessas variantes, provenientes de mais de 300.000 indiv\u00edduos em mais de 115 pa\u00edses.<\/p>\n<p>O CentoMD\u00ae fornece informa\u00e7\u00f5es sobre a correla\u00e7\u00e3o gen\u00f3tipo-fen\u00f3tipo com base em casos cl\u00ednicos analisados na CENTOGENE. O banco de dados \u00e9 baseado em evid\u00eancias e inclui:<\/p>\n<ul>\n<li>Mais de 62.000 variantes classificadas e selecionadas.<\/li>\n<li>Mais de 7,3 milh\u00f5es de variantes, das quais 58% n\u00e3o foram publicadas.<\/li>\n<li>Mais de 3.500 fen\u00f3tipos associados<\/li>\n<li>Mais de 13.300 termos da ontologia do fen\u00f3tipo humano (HPO) e aproximadamente 330.000 associa\u00e7\u00f5es entre indiv\u00edduos e HPO.<\/li>\n<\/ul>\n<p>\u201cO maior desafio no tratamento de doen\u00e7as heredit\u00e1rias raras \u00e9 obter um diagn\u00f3stico precoce para identificar o problema antes que ele progrida demais e para fornecer aconselhamento e iniciar o tratamento o mais r\u00e1pido poss\u00edvel. Infelizmente, a realidade \u00e9 que, em m\u00e9dia, pode levar mais de cinco anos para diagnosticar uma doen\u00e7a heredit\u00e1ria rara. Isso \u00e9 tempo demais\u201d, disse o Dr. Arndt Rolfs, fundador e CEO da CENTOGENE. \u201cCom a nossa vers\u00e3o mais recente do CentoMD\u00ae, estamos fornecendo aos m\u00e9dicos e geneticistas as informa\u00e7\u00f5es mais completas sobre variantes gen\u00e9ticas para que possam fazer diagn\u00f3sticos cruciais o mais cedo poss\u00edvel.\u201d<\/p>","protected":false},"excerpt":{"rendered":"<p>Fornece aos m\u00e9dicos uma enciclop\u00e9dia virtual de informa\u00e7\u00f5es gen\u00e9ticas ao seu alcance para um diagn\u00f3stico mais preciso e eficiente de doen\u00e7as raras.<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2401","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is 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