{"id":731,"date":"2015-01-29T19:36:30","date_gmt":"2015-01-29T19:36:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=731"},"modified":"2015-01-29T19:39:16","modified_gmt":"2015-01-29T19:39:16","slug":"efficient-strategy-for-the-molecular-diagnosis-of-intellectual-disability-using-targeted-high-throughput-sequencing","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/01\/29\/efficient-strategy-for-the-molecular-diagnosis-of-intellectual-disability-using-targeted-high-throughput-sequencing\/","title":{"rendered":"Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing"},"content":{"rendered":"<p><span style=\"color: #000000;font-family: Calibri\">Learning outcomes<\/span><\/p>\n<p><span style=\"color: #000000;font-family: Calibri\">After completing this module you should be able to:<\/span><\/p>\n<p><span style=\"color: #000000;font-family: Calibri\">Be aware of the genetic heterogeneity of ID and the diagnostic yield of different approaches to investigation<\/span><\/p>\n<p><span style=\"color: #000000;font-family: Calibri\">Understand the challenges associated with interpreting variants identified by next generation sequencing (NGS) and the principles behind assigning causality<\/span><\/p>\n<p><span style=\"color: #000000;font-family: Calibri\">Understand the strengths and weaknesses of a targeted sequencing approach as compared to trio-exome analyses\/ whole genome sequencing (WGS).<\/span><\/p>\n<p><span style=\"color: #000000;font-family: Calibri\">Written by:<\/span><\/p>\n<p><span style=\"color: #000000;font-family: Calibri\">Redin C, G\u00e9rard B, Lauer J, Herenger Y, Muller J, Quartier A, et al. (<\/span><a href=\"http:\/\/learning.bmj.com\/learning\/module-intro\/.html?moduleId=10051729&amp;searchTerm=\u201cUtility%20of%20next%20generation%20sequencing%20in%20genetic%20diagnosis%20of%20early%20onset%20neuromuscular%20disorders%20\u201d&amp;page=1&amp;locale=en_GB\"><span style=\"color: #0563c1;font-family: Calibri\">http:\/\/learning.bmj.com\/learning\/module-intro\/.html?moduleId=10051729&amp;searchTerm=\u201cUtility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders \u201d&amp;page=1&amp;locale=en_GB<\/span><\/a><span style=\"color: #000000;font-family: Calibri\">) <\/span><\/p>\n<p>&nbsp;<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Learning outcomes After completing this module you should be able to: Be aware of the genetic heterogeneity of ID and the diagnostic yield of different approaches to investigation Understand the challenges associated with interpreting variants identified by next generation sequencing (NGS) and the principles behind assigning causality Understand the strengths and weaknesses of a targeted [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/01\/29\/efficient-strategy-for-the-molecular-diagnosis-of-intellectual-disability-using-targeted-high-throughput-sequencing\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-731","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - 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