{"id":2422,"date":"2018-02-02T00:00:00","date_gmt":"2018-02-02T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2422"},"modified":"2018-02-02T00:00:00","modified_gmt":"2018-02-02T00:00:00","slug":"informe-de-enfermedades-raras-centomdr-ofrece-una-enciclopedia-virtual-de-informacion-genetica","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/rare-disease-report-centomdr-provides-a-virtual-encyclopedia-of-genetic-information\/","title":{"rendered":"Informe de enfermedades raras: CentoMD\u00ae ofrece una enciclopedia virtual de informaci\u00f3n gen\u00e9tica"},"content":{"rendered":"

Uno de los sitios web para la comunidad de enfermedades raras, Rare Disease Report, ha compartido noticias emocionantes sobre CentoMD\u00ae<\/a> Hito en la base de datos de mutaciones: mil millones de alelos recolectados de m\u00e1s de 200.000 muestras de pacientes.<\/p>\n

\u201cCentoMD\u00ae<\/a> \u201dProporciona una enciclopedia virtual de informaci\u00f3n gen\u00e9tica, lo que permite a los profesionales de la salud diagnosticar y tratar enfermedades raras de una manera mucho m\u00e1s eficiente, r\u00e1pida y espec\u00edfica\u201d, explic\u00f3 el Dr. Arndt Rolfs, director ejecutivo de Centogene.<\/p>\n

La empresa cree que la investigaci\u00f3n disponible en la base de datos puede ayudar a los profesionales de la salud a diagnosticar a sus pacientes de manera eficiente, dando como resultado tratamientos m\u00e1s efectivos.<\/p>\n

\u201cAlcanzar m\u00e1s de mil millones de alelos en nuestra base de datos CentoMD\u00ae es un gran logro y mejorar\u00e1 significativamente la calidad de cualquier conjunto de datos gen\u00e9ticos, siendo la base para la atenci\u00f3n m\u00e9dica futura\u201d, dijo el profesor Rolfs en un comunicado de prensa.<\/p>\n

Los datos de la base de datos se basan en personas diagnosticadas cl\u00ednicamente en todo el mundo e incluyen informaci\u00f3n sobre enfermedades raras en cuanto a ubicaci\u00f3n gen\u00e9tica, cambios proteicos, tipos de variaci\u00f3n y an\u00e1lisis bioqu\u00edmicos. Los profesionales sanitarios tienen acceso a mutaciones gen\u00e9ticas anotadas y estandarizadas, as\u00ed como a 57% de variantes cl\u00ednicas no publicadas. Los suscriptores pueden exportar los datos relevantes a un archivo de Excel para sus registros personales.<\/p>\n

La base de datos CentoMD\u00ae m\u00e1s actualizada brinda a los m\u00e9dicos acceso a m\u00e1s de 5,2 millones de variantes, muchas de las cuales se detectan mediante secuenciaci\u00f3n del exoma completo.<\/p>\n

Los m\u00e9dicos tambi\u00e9n pueden realizar consultas basadas en s\u00edntomas seg\u00fan la ontolog\u00eda del fenotipo humano (HPO) y, a cambio, CentoMD\u00ae proporciona posibles genes candidatos y variantes que posiblemente puedan definir los s\u00edntomas de inter\u00e9s.<\/p>\n

Se actualiza trimestralmente, mientras que Centogene realiza una reevaluaci\u00f3n constante de las variantes. Se diagnostican aproximadamente 18.000 casos al mes y se a\u00f1aden a la base de datos. Los profesionales sanitarios suscritos a la base de datos reciben siempre notificaciones de estos cambios para garantizar que proporcionen el diagn\u00f3stico m\u00e1s preciso a sus pacientes.<\/p>\n

Centogene cree que la motivaci\u00f3n de los investigadores que investigan enfermedades gen\u00e9ticas raras se basa en una actitud centrada en el paciente.<\/p>\n

Puedes encontrarlo en el art\u00edculo original aqu\u00ed<\/a>.<\/p>","protected":false},"excerpt":{"rendered":"

Uno de los sitios web para la comunidad de enfermedades raras, Rare Disease Report, ha compartido noticias emocionantes sobre el hito de la base de datos de mutaciones CentoMD\u00ae: mil millones de alelos recolectados de m\u00e1s de 200 000 muestras de pacientes.<\/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-2422","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"\nRare Disease Report: CentoMD\u00ae provides a virtual encyclopedia of genetic information | 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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