{"id":2378,"date":"2019-07-01T00:00:00","date_gmt":"2019-07-01T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2378"},"modified":"2019-07-01T00:00:00","modified_gmt":"2019-07-01T00:00:00","slug":"a-centogene-revela-o-crescimento-da-base-de-conhecimento-sobre-doencas-hereditarias-raras","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/centogene-reveals-growth-of-rare-hereditary-disease-knowledge-base\/","title":{"rendered":"CENTOGENE revela o crescimento da base de conhecimento sobre doen\u00e7as heredit\u00e1rias raras."},"content":{"rendered":"<p>A CENTOGENE revelou hoje o crescimento de sua base de conhecimento sobre doen\u00e7as heredit\u00e1rias raras. Na atualiza\u00e7\u00e3o de hoje do CentoMD\u00ae \u2014 o reposit\u00f3rio de dados epidemiol\u00f3gicos, fenot\u00edpicos e cl\u00ednicos da empresa \u2014, desde dezembro de 2018, o n\u00famero de casos analisados aumentou em 161,4 milh\u00f5es, chegando a mais de 360.000, e o n\u00famero total de variantes cresceu em 261,4 milh\u00f5es, totalizando 9,3 milh\u00f5es. Isso agora abrange dados de mais de 120 pa\u00edses, ressaltando a importante diversidade \u00e9tnica da base de conhecimento da CENTOGENE.<\/p>\n<p>Para fins de compara\u00e7\u00e3o, o ClinVar \u2013 o banco de dados gratuito \u2013 cont\u00e9m 510.000 variantes em junho de 2019, enquanto o HGMD Pro cont\u00e9m 255.000 variantes em janeiro de 2019.<\/p>\n<p>\u201cAcreditamos que o CentoMD\u00ae seja o maior banco de dados de muta\u00e7\u00f5es do mundo para doen\u00e7as raras, e uma importante ponte entre variantes gen\u00e9ticas e interpreta\u00e7\u00e3o cl\u00ednica \u2013 com um n\u00famero significativo de variantes n\u00e3o publicadas\u201d, disse o Dr. Arndt Rolfs, CEO da CENTOGENE. \u201cAo seguir um rigoroso processo de curadoria de dados, estamos fornecendo dados altamente precisos e relevantes para o diagn\u00f3stico cl\u00ednico e a tomada de decis\u00f5es.\u201d<\/p>\n<p>\u201cNossa an\u00e1lise gen\u00e9tica, prote\u00f4mica e metab\u00f3lica detalhada \u00e9 fundamental para ampliar a base de conhecimento sobre popula\u00e7\u00f5es de pacientes com doen\u00e7as raras, ajudando a impulsionar o programa de desenvolvimento de biomarcadores da CENTOGENE e apoiando nossos parceiros farmac\u00eauticos na acelera\u00e7\u00e3o do desenvolvimento de medicamentos \u00f3rf\u00e3os. Em \u00faltima an\u00e1lise, nosso conhecimento e experi\u00eancia visam beneficiar nossos pacientes com doen\u00e7as raras, ajudando a p\u00f4r fim \u00e0 odisseia diagn\u00f3stica que muitos deles enfrentam\u201d, acrescentou Rolfs.<\/p>\n<p>O CentoMD\u00ae cont\u00e9m dados que combinam informa\u00e7\u00f5es sobre variantes gen\u00e9ticas com informa\u00e7\u00f5es prote\u00f4micas e metabol\u00f4micas, especialmente para genes de alto rendimento. A classifica\u00e7\u00e3o de variantes no CentoMD\u00ae segue as diretrizes do American College of Medical Genetics and Genomics para classifica\u00e7\u00e3o uniforme de variantes. Com um processo de curadoria altamente qualificado e padronizado, o CentoMD\u00ae fornece interpreta\u00e7\u00f5es cl\u00ednicas de alta qualidade para variantes rec\u00e9m-identificadas e garante que as altera\u00e7\u00f5es na classifica\u00e7\u00e3o de variantes sejam comunicadas e refletidas nas interpreta\u00e7\u00f5es cl\u00ednicas em tempo h\u00e1bil.<\/p>\n<p>Mais informa\u00e7\u00f5es sobre o CentoMD\u00ae (v5.4) podem ser encontradas aqui. <a href=\"https:\/\/www.centogene.com\/pt\/farmaceutica\/mutation-database-centomd.html\/\" target=\"_blank\" title=\"Mais informa\u00e7\u00f5es\">aqui.<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>CENTOGENE today revealed the growth in its knowledge-base of rare hereditary diseases. In today\u2019s update to CentoMD\u00ae&nbsp; \u0336&nbsp; the Company\u2019s [&hellip;]<\/p>\n","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-2378","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CENTOGENE Reveals Growth of Rare Hereditary Disease Knowledge Base | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.centogene.com\/pt\/a-centogene-revela-o-crescimento-da-base-de-conhecimento-sobre-doencas-hereditarias-raras\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CENTOGENE Reveals Growth of Rare Hereditary Disease Knowledge Base | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"CENTOGENE today revealed the growth in its knowledge-base of rare hereditary diseases. 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