{"id":38921,"date":"2018-10-16T14:17:20","date_gmt":"2018-10-16T14:17:20","guid":{"rendered":"https:\/\/\u200bnew.iter.es\/?p=38921"},"modified":"2025-03-31T10:58:28","modified_gmt":"2025-03-31T10:58:28","slug":"udigen","status":"publish","type":"post","link":"https:\/\/www.iter.es\/en\/udigen\/","title":{"rendered":"UDIGEN"},"content":{"rendered":"<h3 class=\"fusion-responsive-typography-calculated\" data-fontsize=\"18\" data-lineheight=\"23.4px\">Development of a genomic diagnostic unit<\/h3>\n<h3 class=\"fusion-responsive-typography-calculated\" data-fontsize=\"15\" data-lineheight=\"45px\">Details<\/h3>\n<p><strong>Acronym<\/strong>:\u00a0UDIGEN<\/p>\n<p><strong>Reference:\u00a0<\/strong>RTC\u20102017\u20106471\u20101<\/p>\n<p><strong>Partners<\/strong>:<\/p>\n<ul>\n<li>Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables (ITER) \u2013 project\u2019s coordinator<\/li>\n<li>Universidad de La Laguna (ULL)<\/li>\n<li>Fundaci\u00f3n Canaria de Investigaci\u00f3n Sanitaria (FUNCANIS)<\/li>\n<\/ul>\n<p><strong>Duration<\/strong>: September 2018 \u2013 December 2021<\/p>\n<p><strong>Financed budget:<\/strong>\u00a0904.828,99 \u20ac<\/p>\n<p>Grant: 431.346,30 \u20ac<\/p>\n<p>Reimbursable ERDF advance: 80.037,70 \u20ac<\/p>\n<p>Loan: 0,00 \u20ac<\/p>\n<p>Own contribution: 393.444,99 \u20ac<\/p>\n<p><strong>Financing:<\/strong><\/p>\n<ul>\n<li>ERDF\/ Ministy of Science, Innovation and Universities \u2013 Agencia Estatal de Investigaci\u00f3n<\/li>\n<\/ul>\n<p>Retos-Colaboraci\u00f3n Call. State Program of Research, Development, and Innovation Oriented to the Challenges of Society. State Plan for Scientific and Technical Research and Innovation 2013-2016.\u00a0Ministry of Economy and Enterprise (MINECO) of the Government of Spain.<\/p>\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"alignnone size-large wp-image-36970\" src=\"https:\/\/\u200bwww.iter.es\/wp-content\/uploads\/2025\/02\/MICIU-Agencia-y-Europa_Mesa-de-trabajo-1.jpg\" alt=\"\" width=\"908\" height=\"171\" srcset=\"https:\/\/www.iter.es\/wp-content\/uploads\/2025\/02\/MICIU-Agencia-y-Europa_Mesa-de-trabajo-1.jpg 908w, https:\/\/www.iter.es\/wp-content\/uploads\/2025\/02\/MICIU-Agencia-y-Europa_Mesa-de-trabajo-1-300x56.jpg 300w, https:\/\/www.iter.es\/wp-content\/uploads\/2025\/02\/MICIU-Agencia-y-Europa_Mesa-de-trabajo-1-768x145.jpg 768w, https:\/\/www.iter.es\/wp-content\/uploads\/2025\/02\/MICIU-Agencia-y-Europa_Mesa-de-trabajo-1-150x28.jpg 150w, https:\/\/www.iter.es\/wp-content\/uploads\/2025\/02\/MICIU-Agencia-y-Europa_Mesa-de-trabajo-1-450x85.jpg 450w\" sizes=\"(max-width: 908px) 100vw, 908px\" \/><\/p>\n<div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_3_5 3_5 fusion-three-fifth fusion-column-first\">\n<div class=\"fusion-column-wrapper fusion-flex-column-wrapper-legacy\">\n<div class=\"fusion-text fusion-text-1\">\n<h3 class=\"fusion-responsive-typography-calculated\" data-fontsize=\"15\" data-lineheight=\"45px\">Overview of the project:<\/h3>\n<p>The general objective of the UDIGEN project is the development of an integrated genomic analysis platform, from sequencing to interpretation, to facilitate genetic counseling, with the aim of reducing the time between suspicion of genetically caused diseases and a definitive diagnosis.<\/p>\n<p>UDIGEN will carry out its activities based on the experience developed around:<br \/>\na) a retrospective orthogonal validation study in patients who already have a genetic diagnosis,<br \/>\nb) a population study using reference samples, and<br \/>\nc) a study of patients with evidence of genetically caused diseases.<\/p>\n<p>As a result of this experience, the routine use of exome sequencing is expected to be introduced as a first-line test to support the diagnosis of genetic-based disorders, leading to a reduction in time and costs until a definitive diagnosis is obtained. Additionally, computer tools for management, consultation, and interpretation of genetic variation will be developed, along with their connection to diseases through efficient Big Data analysis procedures.<\/p>\n<p>Key actions and partners<\/p>\n<p>UDIGEN will primarily focus on exome analysis, being the only next-generation DNA sequencing platform with sufficient capacity to perform these genetic analyses in the Canary Islands Autonomous Community.<\/p>\n<p>The project is conceptualized around the supercomputing and massive sequencing infrastructure of ITER, S.A., and is supported by the accredited expertise of collaborating partners, the University of La Laguna (ULL), and the Canary Islands Foundation for Health Research (FUNCANIS), in the development and adaptation of integrated Big Data tools within the platform for analysis and interpretation of human genetic variation.<\/p>\n<p>UDIGEN\u2019s activities will be based on the experience developed around:<\/p>\n<ol>\n<li>a retrospective orthogonal validation study in patients who already have a genetic diagnosis,<\/li>\n<li>a population study using reference samples, and<\/li>\n<li>a study of patients with evidence of genetically caused diseases.<\/li>\n<\/ol>\n<p>As a result of this experience, the routine use of exome sequencing is expected to be introduced as a first-line test to support the diagnosis of genetic-based disorders, leading to a reduction in time and costs until a definitive diagnosis is obtained. Additionally, computer tools for management, consultation, and interpretation of genetic variation will be developed, along with their connection to diseases through efficient Big Data analysis procedures.<\/p>\n<\/div>\n<div class=\"fusion-clearfix\"><strong>Enlaces de inter\u00e9s:<\/strong><\/div>\n<\/div>\n<\/div>\n<div><\/div>\n<div><a href=\"https:\/\/www.iter.es\/datos\/?lang=en\" target=\"_blank\" rel=\"noopener\">Datos Gen\u00f3mica<\/a><\/div>\n<div><\/div>\n<div><a href=\"http:\/\/www.ciencia.gob.es\/portal\/site\/MICINN\/menuitem.dbc68b34d11ccbd5d52ffeb801432ea0\/?vgnextoid=7df0ad753549e510VgnVCM1000001d04140aRCRD\" target=\"_blank\" rel=\"noopener\">Retos colaboraci\u00f3n<\/a><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Development of a genomic diagnostic unit Details Acronym:\u00a0UDIGEN Reference:\u00a0RTC\u20102017\u20106471\u20101 Partners: Instituto Tecnol\u00f3gico y de Energ\u00edas Renovables (ITER) \u2013 project\u2019s coordinator Universidad de La Laguna (ULL) Fundaci\u00f3n Canaria de Investigaci\u00f3n Sanitaria (FUNCANIS) Duration: September 2018 \u2013 December 2021 Financed budget:\u00a0904.828,99 \u20ac Grant: 431.346,30 \u20ac Reimbursable ERDF advance: 80.037,70 \u20ac Loan: 0,00 \u20ac Own contribution: 393.444,99 \u20ac<\/p>\n","protected":false},"author":1,"featured_media":36973,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[210,74,209],"tags":[212],"class_list":{"0":"post-38921","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-activities","8":"category-genomics","9":"category-projects","10":"tag-genomics-en"},"_links":{"self":[{"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/posts\/38921","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/comments?post=38921"}],"version-history":[{"count":1,"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/posts\/38921\/revisions"}],"predecessor-version":[{"id":38922,"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/posts\/38921\/revisions\/38922"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/media\/36973"}],"wp:attachment":[{"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/media?parent=38921"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/categories?post=38921"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.iter.es\/en\/wp-json\/wp\/v2\/tags?post=38921"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}