{"id":9541,"date":"2020-10-01T08:38:41","date_gmt":"2020-10-01T06:38:41","guid":{"rendered":"https:\/\/web.computaex.es\/?page_id=9541"},"modified":"2025-08-27T08:39:47","modified_gmt":"2025-08-27T06:39:47","slug":"heritagen-genetic-and-genealogical-heritage-unification-for-clinical-decision-making-support-in-inherited-diseases","status":"publish","type":"page","link":"https:\/\/computaex.es\/en\/publicaciones\/heritagen-genetic-and-genealogical-heritage-unification-for-clinical-decision-making-support-in-inherited-diseases\/","title":{"rendered":"HeritaGen: Genetic and Genealogical Heritage Unification for Clinical Decision Making Support in Inherited Diseases"},"content":{"rendered":"
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Databases with genealogical relationships linked to genetic information are very useful for epidemiological studies of genetic disorders. Integral analysis of this data helps clinicians in medical decision making, give genetic advice to families, identify individuals at risk of disease or discover new potential genetic causes for Mendelian diseases. A strategy was designed and implemented to collect the genealogical and genetic heritage of a delimited region to gain knowledge about primary immunodeficiencies (PIDDs) in the area. Next Generation Sequencing (NGS) technologies were used for whole exome sequencing (WES) of potentially immunodeficient participants. High Performance Computing (HPC) technologies were useful to manage the data. We have also developed the HeritaGen web platform to make it easier for clinicians to\u00a0access and interpret information and help them in decision making.<\/p>\n<\/div>\n<\/div>\n<\/div>\n

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Fuente de la publicaci\u00f3n:\u00a0<\/strong><\/div>\n
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  • Jos\u00e9-Luis Gonz\u00e1lez-S\u00e1nchez, Bernab\u00e9 Di\u00e9guez-Roda, Jos\u00e9 Antonio Garc\u00eda Trujillo, Jonathan G\u00f3mez-Raja, Felipe Lemus-Prieto, Ana Mar\u00eda N\u00fa\u00f1ez-Cansado, Mar\u00eda Peguero-Ramos, \u00c1lvaro Rodr\u00edguez-San Pedro and Silvia Romero-Chala.\u00a0HeritaGen: Genetic and Genealogical Heritage Unification for Clinical Decision Making Support in Inherited Diseases<\/em>. IWBBIO 2020, Congreso Internacional de Trabajo sobre Bioinform\u00e1tica e Ingenier\u00eda Biom\u00e9dica. Octubre, 2020.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"

    Databases with genealogical relationships linked to genetic information are very useful for epidemiological studies of genetic disorders. Integral analysis of this data helps clinicians in medical decision making, give genetic …<\/p>","protected":false},"author":1,"featured_media":0,"parent":1583,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"categories":[111,91],"tags":[],"class_list":["post-9541","page","type-page","status-publish","hentry","category-111","category-publicaciones"],"yoast_head":"\nHeritaGen: Genetic and Genealogical Heritage Unification for Clinical Decision Making Support in Inherited Diseases - Fundaci\u00f3n COMPUTAEX<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/computaex.es\/en\/publicaciones\/heritagen-genetic-and-genealogical-heritage-unification-for-clinical-decision-making-support-in-inherited-diseases\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"HeritaGen: Genetic and Genealogical Heritage Unification for Clinical Decision Making Support in Inherited Diseases - Fundaci\u00f3n COMPUTAEX\" \/>\n<meta property=\"og:description\" content=\"Databases with genealogical relationships linked to genetic information are very useful for epidemiological studies of genetic disorders. 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