{"id":34792,"date":"2017-02-22T23:45:20","date_gmt":"2017-02-23T07:45:20","guid":{"rendered":"http:\/\/lifeboat.com\/blog\/2017\/02\/from-fractured-genomes-to-broken-minds"},"modified":"2017-04-16T18:13:22","modified_gmt":"2017-04-17T01:13:22","slug":"from-fractured-genomes-to-broken-minds","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2017\/02\/from-fractured-genomes-to-broken-minds","title":{"rendered":"From Fractured Genomes to Broken Minds"},"content":{"rendered":"<p><a href=\"http:\/\/dana.org\/uploadedFiles\/Pdfs\/From_Fractured_Genomes_to_Broken_Minds.pdf\" title=\"View article as PDF\" target=\"_blank\">View article as PDF<\/a><\/p>\n<p>In recent years, we have dramatically changed our view of human genome, from a collection of DNA base pairs that was largely quite stable to one whose very structure can change. We\u2019ve learned that higher-order structural features, such as specific configurations of repeated base pair sequences, can predispose for DNA rearrangements.<\/p>\n<p>One of the most intriguing types of DNA rearrangements is copy-number variants (CNVs), deletions or duplications of parts of the genome. While CNVs range in size from a few hundred base pairs to several mega-bases affecting the copy number of one to dozens of juxtaposed genes, they are not identifiable by conventional light microscopy. It was not until a few years ago that improved technology enabled us to perform high-resolution genome-wide surveys of CNVs in individual genomes. These surveys revealed a large amount of copy number variation (at least 12,000 CNVs overlapping more than 1,000 genes), most of which represent benign polymorphic changes. CNVs are classified as rare (occurring at a frequency of 1 percent in the population) or common; collectively they cover at least 12\u201313 percent of the genome in the general population.<\/p>\n<p><!-- Link: <a href=\"http:\/\/dana.org\/ReportOnProgress\/Gogos\/\">http:\/\/dana.org\/ReportOnProgress\/Gogos\/<\/a> --><\/p>\n","protected":false},"excerpt":{"rendered":"<p>View article as PDF In recent years, we have dramatically changed our view of human genome, from a collection of DNA base pairs that was largely quite stable to one whose very structure can change. We\u2019ve learned that higher-order structural features, such as specific configurations of repeated base pair sequences, can predispose for DNA rearrangements. [\u2026]<\/p>\n","protected":false},"author":395,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-34792","post","type-post","status-publish","format-standard","hentry","category-biotech-medical"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/34792","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/395"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=34792"}],"version-history":[{"count":1,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/34792\/revisions"}],"predecessor-version":[{"id":47927,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/34792\/revisions\/47927"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=34792"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=34792"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=34792"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}