{"id":48566,"date":"2013-09-16T00:00:00","date_gmt":"2013-09-15T23:00:00","guid":{"rendered":"http:\/\/www.pcb.ub.edu\/functional-genetic-variation-in-humans-comprehensive-map-published\/"},"modified":"2020-11-18T14:53:26","modified_gmt":"2020-11-18T13:53:26","slug":"functional-genetic-variation-in-humans-comprehensive-map-published","status":"publish","type":"post","link":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/","title":{"rendered":"Functional genetic variation in humans: Comprehensive map published"},"content":{"rendered":"

”<\/p>\n

\n
\n
\n\t\t\t\t\t\t<\/a>
\n\t\t\t\t\t\t\n\t\t\t\t\t<\/div><\/div><\/div>\n

\t\t\tThe GEUVADIS (Genetic European Variation in health and Disease) project, funded by the European Commission’s FP7 programme, is coordinated by Xavier Estivill, a group leader at the Centre for Genomic Regulation (CRG) in Barcelona. Scientists from two other Spanish institutions also contributed to the work, at the Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG), based in the Parc Cient\u00edfic de Barcelona\u2013 and the University of Santiago (USC). <\/p>\n

Understanding how each person’s unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today. Geneticists study how different genetic profiles affect whether certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders. <\/p>\n

Largest-ever human RNA sequencing study <\/b><\/p>\n

The study, conducted by over 50 scientists from nine European institutes, measured gene activity (i.e. gene expression) by sequencing RNA in human cells from 462 individuals, whose full genome sequences had already been published as part of the 1000 Genomes Project. This study adds a functional interpretation to the most important catalogue of human genomes. <\/p>\n

\u2018The richness of genetic variation that affects the regulation of most of our genes surprised us,” says study coordinator Tuuli Lappalainen, previously at UNIGE and now at Stanford University. “It is important that we figure out the general laws of how the human genome works, rather than just delving into individual genes.” The biological discovery was enabled by a staggering amount of RNA data from multiple human populations. <\/p>\n

A boost for personalised medicine<\/b><\/p>\n

Knowing which genetic variants are responsible for differences in gene activity among individuals can give powerful clues for diagnosis, prognosis and intervention of different diseases. Senior author Emmanouil Dermitzakis, a Louis Jeantet Professor at UNIGE who led the study, emphasises that today’s study has profound implications for genomic medicine. <\/p>\n

“Understanding the cellular effects of disease-predisposing variants helps us understand causal mechanisms of disease,” Dr. Dermitzakis points out. “This is essential for developing treatments in the future.” <\/p>\n

“Today’s results link genome variability at the structural level with gene expression profiles. This work paves the way towards the study of gene function based on information contained in RNA and its population variants”, says Xavier Estivill, coordinator of the GEUVADIS project and leader of the Spanish contribution to this study. <\/p>\n

CNAG contribution<\/b><\/p>\n

At the CNAG Ivo Gut led the contribution to the study, Katja Kahlem and Marta Gut performed sequencing and Michael Sammeth, Thasso Griebel, Paolo Ribeca and Sergi Beltran did the bioinformatics analysis. According to Ivo Gut “This work demonstrates that using well defined and standardized laboratory procedures, RNA analysis projects can be done across different sequencing centers. This breaks a long-held belief that such experiment need to be done on one site at one time and that results from different studies are difficult or impossible to compare.” <\/p>\n

For further information [+]<\/a> <\/p>\n","protected":false},"excerpt":{"rendered":"

European scientists, led by researchers from the Faculty of Medicine of the University of Geneva (UNIGE) in the context of the GEUVADIS<\/a> project, present a map that points to the genetic causes of differences between people. The study \u2013published in Nature (doi:10.1038\/nature12531<\/a>) and Nature Biotechnology (doi:10.1038\/nbt.2702<\/a>)\u2013 offers the largest-ever dataset linking human genomes to gene activity at the level of RNA. <\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[8],"tags":[],"class_list":["post-48566","post","type-post","status-publish","format-standard","category-uncategorized"],"acf":[],"yoast_head":"\nFunctional genetic variation in humans: Comprehensive map published - Parc Cient\u00edfic de Barcelona<\/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:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Functional genetic variation in humans: Comprehensive map published - Parc Cient\u00edfic de Barcelona\" \/>\n<meta property=\"og:description\" content=\"European scientists, led by researchers from the Faculty of Medicine of the University of Geneva (UNIGE) in the context of the GEUVADIS project, present a map that points to the genetic causes of differences between people. The study \u2013published in Nature (doi:10.1038\/nature12531) and Nature Biotechnology (doi:10.1038\/nbt.2702)\u2013 offers the largest-ever dataset linking human genomes to gene activity at the level of RNA.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/\" \/>\n<meta property=\"og:site_name\" content=\"Parc Cient\u00edfic de Barcelona\" \/>\n<meta property=\"article:published_time\" content=\"2013-09-15T23:00:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2020-11-18T13:53:26+00:00\" \/>\n<meta property=\"og:image\" content=\"http:\/\/www.pcb.ub.edu\/wp-content\/uploads\/2020\/11\/1379516884869.jpg\" \/>\n<meta name=\"author\" content=\"adminpcb\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"adminpcb\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/\"},\"author\":{\"name\":\"adminpcb\",\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/es\\\/#\\\/schema\\\/person\\\/d13cab05cd0a75b17fddca8496481021\"},\"headline\":\"Functional genetic variation in humans: Comprehensive map published\",\"datePublished\":\"2013-09-15T23:00:00+00:00\",\"dateModified\":\"2020-11-18T13:53:26+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/\"},\"wordCount\":479,\"image\":{\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/#primaryimage\"},\"thumbnailUrl\":\"http:\\\/\\\/www.pcb.ub.edu\\\/wp-content\\\/uploads\\\/2020\\\/11\\\/1379516884869.jpg\",\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/\",\"url\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/\",\"name\":\"Functional genetic variation in humans: Comprehensive map published - Parc Cient\u00edfic de Barcelona\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/es\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/#primaryimage\"},\"thumbnailUrl\":\"http:\\\/\\\/www.pcb.ub.edu\\\/wp-content\\\/uploads\\\/2020\\\/11\\\/1379516884869.jpg\",\"datePublished\":\"2013-09-15T23:00:00+00:00\",\"dateModified\":\"2020-11-18T13:53:26+00:00\",\"author\":{\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/es\\\/#\\\/schema\\\/person\\\/d13cab05cd0a75b17fddca8496481021\"},\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/#primaryimage\",\"url\":\"http:\\\/\\\/www.pcb.ub.edu\\\/wp-content\\\/uploads\\\/2020\\\/11\\\/1379516884869.jpg\",\"contentUrl\":\"http:\\\/\\\/www.pcb.ub.edu\\\/wp-content\\\/uploads\\\/2020\\\/11\\\/1379516884869.jpg\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/functional-genetic-variation-in-humans-comprehensive-map-published\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Functional genetic variation in humans: Comprehensive map published\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/es\\\/#website\",\"url\":\"https:\\\/\\\/www.pcb.ub.edu\\\/es\\\/\",\"name\":\"Parc Cient\u00edfic de Barcelona\",\"description\":\"Universitat de Barcelona\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/www.pcb.ub.edu\\\/es\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/www.pcb.ub.edu\\\/es\\\/#\\\/schema\\\/person\\\/d13cab05cd0a75b17fddca8496481021\",\"name\":\"adminpcb\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/41ad0fab4bb3bf5348b0af9612159cfd93173a57bbca98fecb50fa6f3ab97d28?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/41ad0fab4bb3bf5348b0af9612159cfd93173a57bbca98fecb50fa6f3ab97d28?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/41ad0fab4bb3bf5348b0af9612159cfd93173a57bbca98fecb50fa6f3ab97d28?s=96&d=mm&r=g\",\"caption\":\"adminpcb\"},\"url\":\"https:\\\/\\\/www.pcb.ub.edu\\\/en\\\/author\\\/adminpcb\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Functional genetic variation in humans: Comprehensive map published - Parc Cient\u00edfic de Barcelona","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/","og_locale":"en_US","og_type":"article","og_title":"Functional genetic variation in humans: Comprehensive map published - Parc Cient\u00edfic de Barcelona","og_description":"European scientists, led by researchers from the Faculty of Medicine of the University of Geneva (UNIGE) in the context of the GEUVADIS project, present a map that points to the genetic causes of differences between people. The study \u2013published in Nature (doi:10.1038\/nature12531) and Nature Biotechnology (doi:10.1038\/nbt.2702)\u2013 offers the largest-ever dataset linking human genomes to gene activity at the level of RNA.","og_url":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/","og_site_name":"Parc Cient\u00edfic de Barcelona","article_published_time":"2013-09-15T23:00:00+00:00","article_modified_time":"2020-11-18T13:53:26+00:00","og_image":[{"url":"http:\/\/www.pcb.ub.edu\/wp-content\/uploads\/2020\/11\/1379516884869.jpg","type":"","width":"","height":""}],"author":"adminpcb","twitter_card":"summary_large_image","twitter_misc":{"Written by":"adminpcb","Est. reading time":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/#article","isPartOf":{"@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/"},"author":{"name":"adminpcb","@id":"https:\/\/www.pcb.ub.edu\/es\/#\/schema\/person\/d13cab05cd0a75b17fddca8496481021"},"headline":"Functional genetic variation in humans: Comprehensive map published","datePublished":"2013-09-15T23:00:00+00:00","dateModified":"2020-11-18T13:53:26+00:00","mainEntityOfPage":{"@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/"},"wordCount":479,"image":{"@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/#primaryimage"},"thumbnailUrl":"http:\/\/www.pcb.ub.edu\/wp-content\/uploads\/2020\/11\/1379516884869.jpg","inLanguage":"en-US"},{"@type":"WebPage","@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/","url":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/","name":"Functional genetic variation in humans: Comprehensive map published - Parc Cient\u00edfic de Barcelona","isPartOf":{"@id":"https:\/\/www.pcb.ub.edu\/es\/#website"},"primaryImageOfPage":{"@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/#primaryimage"},"image":{"@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/#primaryimage"},"thumbnailUrl":"http:\/\/www.pcb.ub.edu\/wp-content\/uploads\/2020\/11\/1379516884869.jpg","datePublished":"2013-09-15T23:00:00+00:00","dateModified":"2020-11-18T13:53:26+00:00","author":{"@id":"https:\/\/www.pcb.ub.edu\/es\/#\/schema\/person\/d13cab05cd0a75b17fddca8496481021"},"breadcrumb":{"@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/#primaryimage","url":"http:\/\/www.pcb.ub.edu\/wp-content\/uploads\/2020\/11\/1379516884869.jpg","contentUrl":"http:\/\/www.pcb.ub.edu\/wp-content\/uploads\/2020\/11\/1379516884869.jpg"},{"@type":"BreadcrumbList","@id":"https:\/\/www.pcb.ub.edu\/en\/functional-genetic-variation-in-humans-comprehensive-map-published\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/www.pcb.ub.edu\/en\/"},{"@type":"ListItem","position":2,"name":"Functional genetic variation in humans: Comprehensive map published"}]},{"@type":"WebSite","@id":"https:\/\/www.pcb.ub.edu\/es\/#website","url":"https:\/\/www.pcb.ub.edu\/es\/","name":"Parc Cient\u00edfic de Barcelona","description":"Universitat de Barcelona","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.pcb.ub.edu\/es\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Person","@id":"https:\/\/www.pcb.ub.edu\/es\/#\/schema\/person\/d13cab05cd0a75b17fddca8496481021","name":"adminpcb","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/41ad0fab4bb3bf5348b0af9612159cfd93173a57bbca98fecb50fa6f3ab97d28?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/41ad0fab4bb3bf5348b0af9612159cfd93173a57bbca98fecb50fa6f3ab97d28?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/41ad0fab4bb3bf5348b0af9612159cfd93173a57bbca98fecb50fa6f3ab97d28?s=96&d=mm&r=g","caption":"adminpcb"},"url":"https:\/\/www.pcb.ub.edu\/en\/author\/adminpcb\/"}]}},"_links":{"self":[{"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/posts\/48566","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/comments?post=48566"}],"version-history":[{"count":1,"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/posts\/48566\/revisions"}],"predecessor-version":[{"id":52511,"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/posts\/48566\/revisions\/52511"}],"wp:attachment":[{"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/media?parent=48566"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/categories?post=48566"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.pcb.ub.edu\/en\/wp-json\/wp\/v2\/tags?post=48566"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}