{"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":"actualizaciones-de-centomdr-la-base-de-datos-de-mutaciones-geneticas-de-enfermedades-raras-mas-grande-del-mundo","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/updates-to-centomdr-worlds-largest-genetic-mutation-database-of-rare-diseases\/","title":{"rendered":"Actualizaciones de CentoMD\u00ae, la base de datos de mutaciones gen\u00e9ticas de enfermedades raras m\u00e1s grande del mundo"},"content":{"rendered":"<p>CENTOGENE anunci\u00f3 hoy actualizaciones de <a href=\"https:\/\/www.centogene.com\/es\/digital-solutions\/mutation-database-centomd.html\/\" target=\"_blank\" title=\"M\u00e1s sobre CentoMD\">CentoMD\u00ae<\/a>, la base de datos de mutaciones gen\u00e9ticas de enfermedades raras m\u00e1s grande del mundo. Esta nueva versi\u00f3n reduce la brecha cr\u00edtica entre las variantes gen\u00e9ticas y la interpretaci\u00f3n cl\u00ednica, combinando informaci\u00f3n gen\u00e9tica cl\u00ednica precisa y biomarcadores. El conocimiento y los datos generados recientemente se basan ahora en variantes causantes de enfermedades, confirmadas mediante datos de biomarcadores. Esta combinaci\u00f3n \u00fanica estandariza y agiliza la interpretaci\u00f3n m\u00e9dica de estas variantes, provenientes de m\u00e1s de 300.000 personas en m\u00e1s de 115 pa\u00edses.<\/p>\n<p>CentoMD\u00ae proporciona informaci\u00f3n sobre la correlaci\u00f3n genotipo-fenotipo basada en casos cl\u00ednicos analizados en CENTOGENE. La base de datos est\u00e1 basada en la evidencia e incluye:<\/p>\n<ul>\n<li>M\u00e1s de 62.000 variantes clasificadas y seleccionadas<\/li>\n<li>M\u00e1s de 7,3 millones de variantes, de las cuales el 58 por ciento no est\u00e1n publicadas.<\/li>\n<li>M\u00e1s de 3.500 fenotipos asociados<\/li>\n<li>M\u00e1s de 13.300 t\u00e9rminos de ontolog\u00eda del fenotipo humano (HPO) y aproximadamente 330.000 asociaciones entre individuos y HPO<\/li>\n<\/ul>\n<p>\u201cEl mayor reto en el tratamiento de las enfermedades raras hereditarias es lograr un diagn\u00f3stico temprano para identificar el problema antes de que progrese demasiado, brindar asesoramiento e iniciar el tratamiento lo antes posible. Desafortunadamente, la realidad es que diagnosticar una enfermedad hereditaria rara puede llevar m\u00e1s de cinco a\u00f1os en promedio. Esto es demasiado tiempo \u2014afirm\u00f3 el Dr. Arndt Rolfs, fundador y director ejecutivo de CENTOGENE\u2014. Con nuestra \u00faltima versi\u00f3n de CentoMD\u00ae, proporcionamos a m\u00e9dicos y genetistas la informaci\u00f3n m\u00e1s completa sobre las variantes gen\u00e9ticas para realizar diagn\u00f3sticos cruciales lo antes posible.\u201d<\/p>","protected":false},"excerpt":{"rendered":"<p>Proporciona a los m\u00e9dicos una enciclopedia virtual de informaci\u00f3n gen\u00e9tica a su alcance para un diagn\u00f3stico mejorado y eficiente de enfermedades 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 optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Updates to CentoMD\u00ae, 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