{"id":2395,"date":"2019-02-01T00:00:00","date_gmt":"2019-02-01T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2395"},"modified":"2019-02-01T00:00:00","modified_gmt":"2019-02-01T00:00:00","slug":"nuevo-marco-de-validacion-para-optimizar-la-especificidad-y-la-sensibilidad-en-diagnosticos-basados-en-wes","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/new-validation-framework-to-optimize-specificity-and-sensitivity-in-wes-based-diagnostics\/","title":{"rendered":"Nuevo marco de validaci\u00f3n para optimizar la especificidad y la sensibilidad en diagn\u00f3sticos basados en WES"},"content":{"rendered":"<p>CENTOGENE, una empresa de enfermedades raras comprometida a mejorar las vidas de los pacientes de enfermedades raras al brindar soluciones que aceleran el desarrollo de medicamentos, ha publicado el desarrollo de un marco de fundamento para optimizar la sensibilidad y especificidad en los diagn\u00f3sticos basados en la secuenciaci\u00f3n del exoma completo (WES) de una poblaci\u00f3n de pacientes cl\u00ednicamente heterog\u00e9nea utilizando la validaci\u00f3n de secuenciaci\u00f3n de Sanger ortogonal.<\/p>\n<p>Si bien la secuenciaci\u00f3n de nueva generaci\u00f3n (NGS) est\u00e1 reemplazando claramente al m\u00e9todo de secuenciaci\u00f3n de ADN de Sanger, no solo para la investigaci\u00f3n, sino tambi\u00e9n para las pruebas de diagn\u00f3stico gen\u00e9tico de rutina, los estudios han demostrado que no es tan confiable como una prueba gen\u00e9tica independiente. Dado que la NGS introduce un n\u00famero relevante de falsos positivos y falsos negativos, CENTOGENE ha determinado c\u00f3mo optimizar el uso de la secuenciaci\u00f3n ortogonal de variantes de Sanger en paralelo al analizar casos l\u00edmite. En la edici\u00f3n de enero de 2019 de Genetics in Medicine, CENTOGENE describi\u00f3 en el manuscrito titulado &#039;Desarrollo de un algoritmo basado en la evidencia que optimiza la sensibilidad y la especificidad en los diagn\u00f3sticos basados en ES de una poblaci\u00f3n de pacientes cl\u00ednicamente heterog\u00e9nea&#039; un marco donde las llamadas de variantes de NGS pueden evaluarse y monitorearse de manera consistente, reduciendo significativamente la carga de esta validaci\u00f3n adicional.<\/p>\n<p>CENTOGENE ha desarrollado un \u00e1rbol de decisi\u00f3n que considera tres caracter\u00edsticas espec\u00edficas de cada variante: puntuaci\u00f3n de calidad, n\u00famero de lecturas y frecuencia. Mediante este predictor, es posible clasificar 91,71 TP4T de variantes con una especificidad de 1001 TP4T y una sensibilidad de 99,81 TP4T, dejando solo 8,31 TP4T de variantes por confirmar mediante secuenciaci\u00f3n Sanger adicional. Este resultado evita el sobrefiltrado y la subfiltraci\u00f3n de resultados, lo que permite generar un diagn\u00f3stico m\u00e1s preciso para pacientes con enfermedades raras que, de otro modo, se habr\u00edan pasado por alto. Las implicaciones de este aumento en la especificidad y la sensibilidad tambi\u00e9n se traducen en capacidades de monitorizaci\u00f3n m\u00e1s consistentes.<\/p>\n<p>\u201cEl nuevo marco que hemos desarrollado para optimizar la sensibilidad y la especificidad en los diagn\u00f3sticos basados en WES subraya el enfoque estrat\u00e9gico de CENTOGENE: transformar los datos cl\u00ednicos y gen\u00e9ticos para impulsar el diagn\u00f3stico m\u00e9dico r\u00e1pido de enfermedades hereditarias\u201d, afirm\u00f3 el profesor Peter Bauer, MD, director cient\u00edfico de CENTOGENE y autor principal del estudio. \u201cEste marco puede optimizarse en la industria, el \u00e1mbito acad\u00e9mico y la cl\u00ednica sin comprometer la precisi\u00f3n del diagn\u00f3stico gen\u00e9tico\u201d.\u201d<\/p>\n<p>El estudio se realiz\u00f3 en una amplia poblaci\u00f3n de pacientes del mundo real e incorpora datos de aproximadamente 1000 variantes gen\u00f3micas candidatas. Las muestras de los pacientes se proporcionaron como sangre con EDTA o como gotas de sangre seca en tarjetas de filtro utilizando CentoCard\u00ae de CENTOGENE, una soluci\u00f3n log\u00edstica global desarrollada por CENTOGENE para simplificar la recolecci\u00f3n de muestras a nivel mundial.<\/p>","protected":false},"excerpt":{"rendered":"<p>CENTOGENE, a rare disease company committed to improving the lives of rare disease patients by providing solutions that accelerate the [&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-2395","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\/ 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