{"id":5437,"date":"2015-09-30T19:00:11","date_gmt":"2015-09-30T17:00:11","guid":{"rendered":"http:\/\/news.embl.de\/?p=5437"},"modified":"2024-04-19T15:34:24","modified_gmt":"2024-04-19T13:34:24","slug":"1509-structural-variation","status":"publish","type":"post","link":"https:\/\/www.embl.org\/news\/science\/1509-structural-variation\/","title":{"rendered":"Finding links and missing genes"},"content":{"rendered":"\n<p>Created by researchers at EMBL, the University of Washington, and collaborators, this reference catalogue shows how these large-scale genetic alterations vary in populations across the globe, and will help guide future studies of genetics, evolution and disease. The work, carried out with the 1000 Genomes Project, is published today in <em>Nature<\/em>, alongside a paper on the project\u2019s final outcomes.<\/p>\n\n\n\n<p>\u201cWhen we analysed the genomes of 2500 people, we were surprised to see over 200 genes that are missing entirely in some people,\u201d says Jan Korbel, who led the work at EMBL in Heidelberg, Germany.<\/p>\n\n\n\n<p>\u201cGenome sequencing is beginning to be used for diagnostic purposes, and when doctors see that a piece of the genome is missing in a patient, there\u2019s a temptation to tie that to a diagnosis,\u201d says Evan Eichler, who led the work at the University of Washington. \u201cWe can now let clinicians know that there are certain genes that really should not be used to try to explain diseases in this way.\u201d<\/p>\n\n\n\n<p>Many studies have implicated broadly-defined regions of the genome in common diseases. Interestingly, the large-scale changes catalogued by Korbel, Eichler and colleagues frequently occur in such disease-linked regions, implying that these structural variations are probably common risk factors for disease.<\/p>\n\n\n\n<p>\u201cOur work reveals that structural variations are often likely to have functional consequences,\u201d says Oliver Stegle, whose team at EMBL-EBI took part in the study. \u201cSo we can now advise on what researchers should be looking for when they\u2019re trying to understand the genetic causes of a certain condition.\u201d<\/p>\n\n\n\n<p>In keeping with existing knowledge about genetic diversity, the team found that the structural variations present in people\u2019s genomes depend on where in the world they come from. In European and Asian populations, structural variations made up a greater proportion of changes to the genome than in African populations, while African genomes harboured a much greater diversity overall.<\/p>\n\n\n\n<blockquote class=\"vf-blockquote\"><p>We\u2019re extremely grateful to everyone who donated their DNA<\/p><\/blockquote>\n\n\n\n<p>The scientists also showed that structural variations often have greater effects than changes in single letters of the genome (SNPs). And thanks to technological developments, they were able to catalogue new types of structural variation that previous studies had been missing.<\/p>\n\n\n\n<p>\u201cWe were astonished to find variations which cannot be accounted for by the processes that researchers believed usually alter the genome,\u201d says Korbel, \u201cit will be interesting to find out how these structural variations <em>do <\/em>arise.\u201d<\/p>\n\n\n\n<p>The work was part of the 1000 Genomes Project, which examined genetic variation in over 2500 human genomes, with all data made available online immediately as it emerged. Thanks to this public repository, managed at EMBL-EBI, other scientists have already begun to access and make use of the data.<\/p>\n\n\n\n<p>\u201cWe\u2019re extremely grateful to everyone who donated their DNA to the project and made it available to use openly for research that can enable future biomedical advances,\u201d says Paul Flicek, who is in charge of the public repository of the data at EMBL-EBI. \u201cTheir generosity has not only enabled this project, but will continue to bear fruits in years to come, as many studies will make use of the data.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Missing a gene may not be a big deal \u2013 a conclusion from global catalogue of genetic changes.<\/p>\n","protected":false},"author":8,"featured_media":5439,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[2,17591],"tags":[36,41,42,43,1748],"embl_taxonomy":[],"class_list":["post-5437","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science","category-science-technology","tag-embl-ebi","tag-genetics","tag-genomics","tag-heidelberg","tag-press-release"],"acf":{"article_intro":"<p>Missing a gene may be less problematic than you\u2019d think. This is one of the conclusions that emerge from the most extensive catalogue of structural variations \u2013 changes in large sections of a person\u2019s DNA sequence \u2013 to date.<\/p>\n","related_links":[{"link_description":"Nature paper on the last phase of the 1000 Genomes Project - 1 October 2015. DOI: 10.1038\/nature15393","link_url":"http:\/\/dx.doi.org\/10.1038\/nature15393"},{"link_description":"This article was first published as an EMBL press release, 30 September 2015","link_url":"http:\/\/www.embl.de\/aboutus\/communication_outreach\/media_relations\/2015\/150930_Korbel"}],"article_sources":[{"source_description":"<p>Sudmant, P.H., Rausch, T., Gardner, E.J., Handsaker, R.E., Abyzov, A., Huddleston, J., Zhang, Y., Ye, K. <em>et al.<\/em>\u00a0<em>Nature<\/em>, 1 October 2015. DOI: 10.1038\/nature15394<\/p>\n","source_link_url":"http:\/\/dx.doi.org\/10.1038\/nature15394"}],"vf_locked":false,"featured":false,"color":"#007B53","show_featured_image":false,"in_this_article":false,"youtube_url":"","mp4_url":"","video_caption":"","translations":false,"press_contact":"EMBL Generic"},"embl_taxonomy_terms":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Finding links and missing genes | EMBL<\/title>\n<meta name=\"description\" content=\"Missing a gene may not be a big deal \u2013 one of the conclusions from worldwide catalogue of large-scale genetic changes.\" \/>\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.embl.org\/news\/science\/1509-structural-variation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Finding links and missing genes | EMBL\" \/>\n<meta property=\"og:description\" content=\"Missing a gene may not be a big deal \u2013 one of the conclusions from worldwide catalogue of large-scale genetic changes.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.embl.org\/news\/science\/1509-structural-variation\/\" \/>\n<meta property=\"og:site_name\" content=\"EMBL\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/embl.org\/\" \/>\n<meta property=\"article:published_time\" content=\"2015-09-30T17:00:11+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-04-19T13:34:24+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2015\/09\/pr29sep15-ib.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"620\" \/>\n\t<meta property=\"og:image:height\" content=\"425\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Sonia Furtado Neves\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@Aur_ora\" \/>\n<meta name=\"twitter:site\" content=\"@embl\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Sonia Furtado Neves\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"NewsArticle\",\"@id\":\"https:\/\/www.embl.org\/news\/science\/1509-structural-variation\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.embl.org\/news\/science\/1509-structural-variation\/\"},\"author\":{\"name\":\"Sonia Furtado Neves\",\"@id\":\"https:\/\/www.embl.org\/news\/#\/schema\/person\/d926199a955624b44dda296f396c5e68\"},\"headline\":\"Finding links and missing genes\",\"datePublished\":\"2015-09-30T17:00:11+00:00\",\"dateModified\":\"2024-04-19T13:34:24+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.embl.org\/news\/science\/1509-structural-variation\/\"},\"wordCount\":523,\"publisher\":{\"@id\":\"https:\/\/www.embl.org\/news\/#organization\"},\"image\":{\"@id\":\"https:\/\/www.embl.org\/news\/science\/1509-structural-variation\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2015\/09\/pr29sep15-ib.jpg\",\"keywords\":[\"embl-ebi\",\"genetics\",\"genomics\",\"heidelberg\",\"press release\"],\"articleSection\":[\"Science\",\"Science &amp; 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