{"id":56,"date":"2010-11-10T20:03:43","date_gmt":"2010-11-10T20:03:43","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=56"},"modified":"2010-11-10T20:03:43","modified_gmt":"2010-11-10T20:03:43","slug":"mutation-analysis-of-18-nephronophthisis-associated-ciliopathy-disease-genes-using-a-dna-pooling-and-next-generation-sequencing-strategy","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2010\/11\/10\/mutation-analysis-of-18-nephronophthisis-associated-ciliopathy-disease-genes-using-a-dna-pooling-and-next-generation-sequencing-strategy\/","title":{"rendered":"Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy"},"content":{"rendered":"<p>Otto et al. describe a next generation sequencing strategy to identify mutations in 120 patients affected with a rare cystic kidney disease. The strategy employed involves pooling the DNA of 24 patients, amplyfiying the exons (376) of 18 implicated genes, and next-generation sequence analysis. The strategy is quite specific and successful, confirming 92% of mutations in a control set and identifying disease causing mutations in 30 patients (25%). The strategy is two orders of magnitude more cost-effective compared to standard sequencing techniques and bears potential for further up scaling the number of genes and samples to be analyzed in parallel. (By Dr. Edgar A Otto, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2010\/11\/09\/jmg.2010.082552.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2010\/11\/09\/jmg.2010.082552.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Otto et al. describe a next generation sequencing strategy to identify mutations in 120 patients affected with a rare cystic kidney disease. The strategy employed involves pooling the DNA of 24 patients, amplyfiying the exons (376) of 18 implicated genes, and next-generation sequence analysis. The strategy is quite specific and successful, confirming 92% of mutations [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2010\/11\/10\/mutation-analysis-of-18-nephronophthisis-associated-ciliopathy-disease-genes-using-a-dna-pooling-and-next-generation-sequencing-strategy\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-56","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/56","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=56"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/56\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=56"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=56"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=56"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}