{"id":953,"date":"2016-11-29T19:24:03","date_gmt":"2016-11-29T19:24:03","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=953"},"modified":"2016-11-29T19:24:03","modified_gmt":"2016-11-29T19:24:03","slug":"the-importance-of-dynamic-re-analysis-in-diagnostic-whole-exome-sequencing","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/11\/29\/the-importance-of-dynamic-re-analysis-in-diagnostic-whole-exome-sequencing\/","title":{"rendered":"The importance of dynamic re-analysis in diagnostic whole exome sequencing"},"content":{"rendered":"<p>Exome sequencing is a method of investigating all of a person\u00b9s genes at the same time to look for the mutation that is causing their illness. It is often used when targeted genetic testing has run into a dead end. However, half to three quarters of patients who have their exome sequenced will still not receive a \u0152genetic diagnosis\u00b9. This research by Drs. Anna Need, Vandana Shashi and colleagues explores the reasons that some families do not get a diagnosis through exome sequencing the first time, and presents three patients who received a diagnosis when their exome data was re-analysed.\u00a0 (By Dr. Anna Need, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/29\/jmedgenet-2016-104306\">http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/29\/jmedgenet-2016-104306<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Exome sequencing is a method of investigating all of a person\u00b9s genes at the same time to look for the mutation that is causing their illness. It is often used when targeted genetic testing has run into a dead end. However, half to three quarters of patients who have their exome sequenced will still not [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/11\/29\/the-importance-of-dynamic-re-analysis-in-diagnostic-whole-exome-sequencing\/\">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-953","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\/953","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=953"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/953\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=953"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=953"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=953"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}