{"id":10565,"date":"2017-05-24T02:00:43","date_gmt":"2017-05-24T02:00:43","guid":{"rendered":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/?p=10565"},"modified":"2018-05-24T03:17:25","modified_gmt":"2018-05-24T03:17:25","slug":"targeted-panels-or-exome-which-is-the-right-ngs-approach-for-inherited-disease-research","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/targeted-panels-or-exome-which-is-the-right-ngs-approach-for-inherited-disease-research\/","title":{"rendered":"Targeted Panels or Exome \u2013 Which is the Right NGS Approach for Inherited Disease Research?"},"content":{"rendered":"<p>Researchers studying multi-factorial genetic disorders, such as cardiomyopathy, are using next-generation sequencing, or NGS, to rapidly and effectively analyze disease-associated genes.\u00a0If you\u2019re thinking about using NGS for this application, you\u2019ve probably asked, \u201cshould I use a targeted panel or do exome sequencing?\u201d Targeted sequencing has gained popularity in clinical research, but how do you know if this is right for <strong>your<\/strong> research needs?<\/p>\n<p><iframe loading=\"lazy\" width=\"760\" height=\"428\" src=\"https:\/\/www.youtube.com\/embed\/zuWmekivQ4c?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; encrypted-media; gyroscope; picture-in-picture\" allowfullscreen><\/iframe><\/p>\n<p>Let\u2019s dig a little deeper into targeted sequencing and find out. Targeted sequencing introduces an enrichment step where specific genes or gene regions are selectively amplified using gene panels in a simple PCR reaction.\u00a0A gene panel consists of a pool of oligonucleotide primer pairs, each pair designed to amplify a specified region by PCR\u2014producing a library of DNA amplicons, ready for sequencing.\u00a0A library corresponds to a single sample, and multiple libraries can be pooled together to be sequenced in the same run.\u00a0So what are some factors to consider when deciding on the right approach for your research?<\/p>\n<p>First, since NGS generates an abundance of data, it\u2019s important to consider the implications of managing large datasets. When you\u2019re uncertain of which genes to look for, exome-sequencing helps you look at thousands of genes to get a comprehensive view of the genetic landscape. However, this can create a huge amount of data.\u00a0When analyzing genes with known or suspected associations with a disease, large datasets can make bioinformatics challenging, and add cost with little to no benefit.\u00a0For such applications, targeted sequencing can generate smaller and more manageable datasets based on specific genes, helping you save time, cost, and data-analysis effort.<\/p>\n<p>Next, by focusing on a small genomic region, the targeted sequencing approach achieves much deeper coverage: up to 5,000 times compared to 100 times the coverage of the exome-sequencing approach.This enables identification of low-frequency variants associated with a particular disease\u2014helping to ensure that every underlying variant in a subset of genes is detected.\u00a0With the exome-sequencing approach, some important variants may go undetected;\u00a0however, when the causative genes are not completely known, it may be worth the risk of missing certain regions in support of research.<\/p>\n<p>Another important question to ask is: \u201chow much do I really want to know?\u201d For clinical researchers focusing on the variants that matter, targeted panels can be customized to only include genomic regions of their interest. Unlike exome sequencing, which generates a large number of variants\u2014a sizable proportion of which can be of unknown significance\u2014targeted sequencing helps reduce the risk of stumbling upon these variants.<\/p>\n<p>For more information on Ion AmpliSeq targeted NGS panels,\u00a0<a href=\"https:\/\/www.thermofisher.com\/us\/en\/home\/life-science\/sequencing\/next-generation-sequencing\/ion-torrent-next-generation-sequencing-workflow\/ion-torrent-next-generation-sequencing-select-targets\/ampliseq-target-selection.html?CID=fl-ampliseq\">visit here.<\/a><\/p>\n<p>To browse NGS panels or design your own for free, visit\u00a0<a href=\"http:\/\/www.ampliseq.com\/\">Ion AmpliSeq Designer<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Researchers studying multi-factorial genetic disorders, such as cardiomyopathy, are using next-generation sequencing, or NGS, to rapidly and effectively analyze disease-associated genes.\u00a0If you\u2019re thinking about using NGS for this application, you\u2019ve probably asked, \u201cshould I use a targeted panel or do exome sequencing?\u201d Targeted sequencing has gained popularity in clinical research, but how do you know<\/p>\n","protected":false},"author":350,"featured_media":10573,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_kad_blocks_custom_css":"","_kad_blocks_head_custom_js":"","_kad_blocks_body_custom_js":"","_kad_blocks_footer_custom_js":"","_monsterinsights_skip_tracking":false,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[181,108],"tags":[11,6,176,74,156,155],"division":[],"class_list":{"0":"post-10565","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-inherited-diseases","8":"category-lab-tips-and-tricks","9":"tag-ion-torrent","10":"tag-next-generation-sequencing","11":"tag-seqitout","12":"tag-sequencing","13":"tag-targeted-dna-sequencing","14":"tag-whole-exome-sequencing","15":"entry"},"_selected_authors":"","_selected_reviewers":"","acf":[],"yoast_head":"<!-- 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rapidly and effectively analyze disease-associated genes.\u00a0If you\u2019re thinking about using NGS for this application, you\u2019ve probably asked, \u201cshould I use a targeted panel or do exome sequencing?\u201d Targeted sequencing has gained popularity in clinical research, but how do you know\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.thermofisher.com\/blog\/behindthebench\/targeted-panels-or-exome-which-is-the-right-ngs-approach-for-inherited-disease-research\/\" \/>\n<meta property=\"og:site_name\" content=\"Behind the Bench\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/thermofisher\" \/>\n<meta property=\"article:published_time\" content=\"2017-05-24T02:00:43+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2018-05-24T03:17:25+00:00\" \/>\n<meta property=\"og:image\" 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