{"id":9692,"date":"2017-06-01T10:32:40","date_gmt":"2017-06-01T08:32:40","guid":{"rendered":"https:\/\/web.computaex.es\/?page_id=9692"},"modified":"2025-08-27T10:33:17","modified_gmt":"2025-08-27T08:33:17","slug":"hpc-services-to-characterize-genetic-mutations-through-cloud-computing-federations","status":"publish","type":"page","link":"https:\/\/computaex.es\/en\/publicaciones\/hpc-services-to-characterize-genetic-mutations-through-cloud-computing-federations\/","title":{"rendered":"HPC Services to Characterize Genetic Mutations Through Cloud Computing Federations"},"content":{"rendered":"<div class=\"field field-name-field-pub-descripcion field-type-text-long field-label-hidden\">\n<div class=\"field-items\">\n<div class=\"field-item even\">\n<p>One child in every 200 births may be affected by one of the approximately 6,000 monogenic diseases discovered so far. Establishing the pathogenicity of the mutations detected with NGS (Next-Generation Sequencing) techniques, within the sequence of the associated genes, will allow Precision Medicine concept to be developed. However, sometimes the clinical significance of the mutations detected in a genome may be uncertain (VUS, Variant of Uncertain Significance) which prevents the development of health measures devoted to personalize individuals&#8217; treatments. A VUS pathogenicity can be inferred thanks to evidences obtained from specific types of NGS studies. Therefore the union of supercomputing through HPC (High-Performance Computing) tools and the cloud computing paradigm (HPCC), within a Data Center federation environment offers a solution to develop and provide services to infer the pathogenicity of a set of VUS detected in a genome, while guaranteeing both the security of the information generated during the whole workflow and its availability.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"field field-name-field-pub-fuente field-type-text-long field-label-above\">\n<div class=\"field-label\"><strong>Fuente de la publicaci\u00f3n:\u00a0<\/strong><\/div>\n<div class=\"field-items\">\n<div class=\"field-item even\">\n<ul>\n<li>Manuel-Alfonso L\u00f3pez-Rourich , Felipe Lemus-Prieto , Javier Corral-Garc\u00eda , Jos\u00e9-Luis Gonz\u00e1lez-S\u00e1nchez (2017).\u00a0<a href=\"http:\/\/www.hrpub.org\/journals\/article_info.php?aid=6000\" target=\"_blank\" rel=\"noopener\">HPC Services to Characterize Genetic Mutations through Cloud Computing Federations<\/a>. Computer Science and Information Technology, 5 , 105 &#8211; 112. doi: 10.13189\/csit.2017.050303.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>One child in every 200 births may be affected by one of the approximately 6,000 monogenic diseases discovered so far. Establishing the pathogenicity of the mutations detected with NGS (Next-Generation &#8230;<\/p>","protected":false},"author":1,"featured_media":0,"parent":1583,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"categories":[110,91],"tags":[],"class_list":["post-9692","page","type-page","status-publish","hentry","category-anteriores","category-publicaciones"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>HPC Services to Characterize Genetic Mutations Through Cloud Computing Federations - 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\/hpc-services-to-characterize-genetic-mutations-through-cloud-computing-federations\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"HPC Services to Characterize Genetic Mutations Through Cloud Computing Federations - Fundaci\u00f3n COMPUTAEX\" \/>\n<meta property=\"og:description\" content=\"One child in every 200 births may be affected by one of the approximately 6,000 monogenic diseases discovered so far. 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