{"id":7202,"date":"2012-12-07T06:42:04","date_gmt":"2012-12-07T06:42:04","guid":{"rendered":"http:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/research-into-detection-of-de-novo-mutations-and-fetal-trisomies-video\/"},"modified":"2012-12-07T06:42:04","modified_gmt":"2012-12-07T06:42:04","slug":"research-into-detection-of-de-novo-mutations-and-fetal-trisomies-video","status":"publish","type":"post","link":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/transhuman-news-blog\/genome\/research-into-detection-of-de-novo-mutations-and-fetal-trisomies-video\/","title":{"rendered":"Research into Detection of De Novo Mutations and Fetal Trisomies &#8211; Video"},"content":{"rendered":"<p><br \/>Research into Detection of De Novo Mutations and Fetal Trisomies<br \/>Learn more at <a href=\"http:\/\/www.lifetechnologies.com\" rel=\"nofollow\">http:\/\/www.lifetechnologies.com<\/a> Identification of a single missense de novo mutation in ABCC9, a potassium channel which is causative of Cantu syndrome, a rare musculoskeletal\/cardiac disorder. This discovery was made using trio exome sequencing on the SOLiD 5500 genetic analyzer. The discovery has led to greater understanding of the molecular etiology, and potential treatments for this syndrome. The talk also describes a fast whole genome sequencing analysis method to detect fetal trisomies non-invasively from maternal blood samples.From:LifeTechnologiesCorpViews:0    0ratingsTime:13:42More inScience   Technology<br \/><!-- Auto Generated --><\/p>\n<p>Here is the original post:<br \/>\n<a target=\"_blank\" href=\"http:\/\/www.youtube.com\/watch?v=6lJ_eTTVWjA\" title=\"Research into Detection of De Novo Mutations and Fetal Trisomies - Video\">Research into Detection of De Novo Mutations and Fetal Trisomies - Video<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p> Research into Detection of De Novo Mutations and Fetal Trisomies Learn more at <a href=\"http:\/\/www.lifetechnologies.com\" rel=\"nofollow\">http:\/\/www.lifetechnologies.com<\/a> Identification of a single missense de novo mutation in ABCC9, a potassium channel which is causative of Cantu syndrome, a rare musculoskeletal\/cardiac disorder. This discovery was made using trio exome sequencing on the SOLiD 5500 genetic analyzer. The discovery has led to greater understanding of the molecular etiology, and potential treatments for this syndrome.  <a href=\"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/transhuman-news-blog\/genome\/research-into-detection-of-de-novo-mutations-and-fetal-trisomies-video\/\">Continue reading <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[],"class_list":["post-7202","post","type-post","status-publish","format-standard","hentry","category-genome"],"_links":{"self":[{"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/posts\/7202"}],"collection":[{"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/comments?post=7202"}],"version-history":[{"count":0,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/posts\/7202\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/media?parent=7202"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/categories?post=7202"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/tags?post=7202"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}