{"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":"o-relatorio-sobre-doencas-raras-centomdr-fornece-uma-enciclopedia-virtual-de-informacoes-geneticas","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/rare-disease-report-centomdr-provides-a-virtual-encyclopedia-of-genetic-information\/","title":{"rendered":"Relat\u00f3rio sobre Doen\u00e7as Raras: CentoMD\u00ae oferece uma enciclop\u00e9dia virtual de informa\u00e7\u00f5es gen\u00e9ticas."},"content":{"rendered":"

Um dos sites para a comunidade de doen\u00e7as raras \u2013 Rare Disease Report \u2013 compartilhou not\u00edcias animadoras sobre CentoMD\u00ae<\/a> Marco importante do banco de dados de muta\u00e7\u00f5es: um bilh\u00e3o de alelos coletados de mais de 200.000 amostras de pacientes.<\/p>\n

\u201cCentoMD\u00ae<\/a> \u201dOferece uma enciclop\u00e9dia virtual de informa\u00e7\u00f5es gen\u00e9ticas, permitindo que profissionais de sa\u00fade diagnostiquem e tratem doen\u00e7as raras de maneira muito mais eficiente, r\u00e1pida e direcionada\u201d, explicou Arndt Rolfs, MD, CEO da Centogene.<\/p>\n

A empresa acredita que a pesquisa dispon\u00edvel no banco de dados pode auxiliar os profissionais de sa\u00fade no diagn\u00f3stico eficiente de seus pacientes, resultando em tratamentos mais eficazes.<\/p>\n

\u201cAtingir mais de um bilh\u00e3o de alelos em nosso banco de dados CentoMD\u00ae \u00e9 um marco extraordin\u00e1rio e melhorar\u00e1 significativamente a qualidade de qualquer conjunto de dados gen\u00e9ticos, servindo de base para futuros cuidados m\u00e9dicos\u201d, afirmou o Prof. Rolfs em um comunicado \u00e0 imprensa.<\/p>\n

Os dados do banco de dados s\u00e3o baseados em indiv\u00edduos diagnosticados clinicamente em todo o mundo e incluem informa\u00e7\u00f5es sobre doen\u00e7as raras referentes \u00e0 localiza\u00e7\u00e3o gen\u00e9tica, altera\u00e7\u00f5es proteicas, tipos de varia\u00e7\u00e3o e an\u00e1lises bioqu\u00edmicas. Profissionais de sa\u00fade t\u00eam acesso a muta\u00e7\u00f5es gen\u00e9ticas padronizadas e anotadas, al\u00e9m de variantes cl\u00ednicas n\u00e3o publicadas (57%). Os assinantes podem exportar os dados relevantes para um arquivo Excel para seus registros pessoais.<\/p>\n

A vers\u00e3o mais recente do banco de dados CentoMD\u00ae oferece aos m\u00e9dicos acesso a mais de 5,2 milh\u00f5es de variantes, muitas delas detectadas por sequenciamento de exoma completo.<\/p>\n

Os m\u00e9dicos tamb\u00e9m podem realizar consultas baseadas em sintomas utilizando a Ontologia de Fen\u00f3tipos Humanos (HPO), e, em contrapartida, o CentoMD\u00ae fornece potenciais genes e variantes candidatos que podem definir os sintomas de interesse.<\/p>\n

A base de dados \u00e9 atualizada trimestralmente, enquanto a Centogene realiza uma reavalia\u00e7\u00e3o constante das variantes. Aproximadamente 18.000 casos s\u00e3o diagnosticados e adicionados \u00e0 base de dados mensalmente. Os profissionais de sa\u00fade inscritos na base de dados s\u00e3o sempre notificados dessas altera\u00e7\u00f5es para garantir que forne\u00e7am o diagn\u00f3stico mais preciso aos seus pacientes.<\/p>\n

A Centogene acredita que a motiva\u00e7\u00e3o dos pesquisadores que estudam doen\u00e7as gen\u00e9ticas raras se baseia em uma atitude centrada no paciente.<\/p>\n

Voc\u00ea pode encontrar o artigo original. aqui<\/a>.<\/p>","protected":false},"excerpt":{"rendered":"

Um dos sites para a comunidade de doen\u00e7as raras \u2013 o Rare Disease Report \u2013 compartilhou not\u00edcias animadoras sobre o marco do banco de dados de muta\u00e7\u00f5es CentoMD\u00ae: um bilh\u00e3o de alelos coletados de mais de 200.000 amostras 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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