{"id":2449,"date":"2016-09-20T00:00:00","date_gmt":"2016-09-20T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2449"},"modified":"2016-09-20T00:00:00","modified_gmt":"2016-09-20T00:00:00","slug":"centogene-impulsa-centomdr-la-base-de-datos-de-mutaciones-para-enfermedades-raras-mas-grande-del-mundo","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/centogene-drives-centomdr-the-worlds-largest-mutation-data-base-for-rare-diseases\/","title":{"rendered":"CENTOGENE impulsa CentoMD\u00ae, la base de datos de mutaciones para enfermedades raras m\u00e1s grande del mundo"},"content":{"rendered":"

CentoMD\u00ae, la base de datos patentada l\u00edder a nivel mundial en interpretaci\u00f3n gen\u00e9tica humana, se basa en el conocimiento generado por nuestros servicios globales de pruebas diagn\u00f3sticas, que incorporan una diversidad global sin precedentes. Con la nueva versi\u00f3n de CentoMD\u00ae 3.0, la comunidad m\u00e9dica ahora tiene acceso a un m\u00f3dulo avanzado de fenotipo a genotipo que permite realizar consultas basadas en s\u00edntomas y devuelve genes candidatos, as\u00ed como variantes asociadas subyacentes a los s\u00edntomas de inter\u00e9s. Por otro lado, el m\u00f3dulo de genotipo a fenotipo proporciona una interfaz de b\u00fasqueda interactiva para seleccionar y filtrar genes, transcripciones y variantes. Permite a los usuarios acceder a datos detallados sobre variantes e individuos basados en aproximadamente 2,2 millones de variantes clasificadas, incluyendo variantes detectadas mediante secuenciaci\u00f3n completa del exoma.<\/p>\n

\u201cComprender la carga que supone una enfermedad para el paciente, especialmente si se trata de una enfermedad hereditaria rara, es la labor diaria de los m\u00e9dicos. Descubrir la causa de una enfermedad tendr\u00e1 un impacto inmediato en el paciente. Con CentoMD\u00ae, mejoramos continuamente la interpretaci\u00f3n de las mutaciones con una notable proporci\u00f3n de variantes y mutaciones cl\u00ednicamente relevantes de 56% a\u00fan no publicadas. El uso de toda la informaci\u00f3n disponible permite a los m\u00e9dicos diagnosticar y tratar las enfermedades hereditarias de forma mucho m\u00e1s eficiente, r\u00e1pida y espec\u00edfica, afirm\u00f3 el profesor Arndt Rolfs, director ejecutivo de CENTOGENE.<\/p>","protected":false},"excerpt":{"rendered":"

Con el nuevo lanzamiento de CentoMD\u00ae 3.0, la comunidad m\u00e9dica ahora tiene acceso a un m\u00f3dulo avanzado de fenotipo a genotipo que permite realizar consultas basadas en s\u00edntomas y devuelve genes candidatos, as\u00ed como variantes asociadas subyacentes a los s\u00edntomas de inter\u00e9s.<\/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-2449","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"\nCENTOGENE drives CentoMD\u00ae - the world\u2019s largest mutation data base for rare diseases | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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