{"id":1164,"date":"2018-07-30T18:54:14","date_gmt":"2018-07-30T18:54:14","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1164"},"modified":"2026-02-24T15:45:14","modified_gmt":"2026-02-24T15:45:14","slug":"whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/30\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\/","title":{"rendered":"Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis (Contributed by Dr. Bo Zhou)"},"content":{"rendered":"<p>Stanford researchers show that whole-genome sequencing (WGS) can replace microarrays for detecting copy-number variants (CNVs) in the human genome \u2013 by sequencing the samples at low coverage using benchtop next-generation DNA sequencers. Microarrays are the current standard for CNV detection in clinical diagnostics for birth defects, brain disorders, or cancer, and also in stem cell culture QC.\u00a0 While deep WGS offers the most comprehensive genome analysis, it is still relatively expensive and has turnaround times too long for clinical or QC needs. This new study reveals that low-coverage WGS easily outperforms microarrays in detecting CNVs while offering the same short turnaround times and moderate costs. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2018\/07\/30\/jmedgenet-2018-105272\">https:\/\/jmg.bmj.com\/content\/early\/2018\/07\/30\/jmedgenet-2018-105272<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Stanford researchers show that whole-genome sequencing (WGS) can replace microarrays for detecting copy-number variants (CNVs) in the human genome \u2013 by sequencing the samples at low coverage using benchtop next-generation DNA sequencers. Microarrays are the current standard for CNV detection in clinical diagnostics for birth defects, brain disorders, or cancer, and also in stem cell [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/30\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\/\">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-1164","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis (Contributed by Dr. Bo Zhou) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/30\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis (Contributed by Dr. Bo Zhou) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Stanford researchers show that whole-genome sequencing (WGS) can replace microarrays for detecting copy-number variants (CNVs) in the human genome \u2013 by sequencing the samples at low coverage using benchtop next-generation DNA sequencers. Microarrays are the current standard for CNV detection in clinical diagnostics for birth defects, brain disorders, or cancer, and also in stem cell [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/30\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-07-30T18:54:14+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:45:14+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/30\\\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/30\\\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis (Contributed by Dr. Bo Zhou)\",\"datePublished\":\"2018-07-30T18:54:14+00:00\",\"dateModified\":\"2026-02-24T15:45:14+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/30\\\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\\\/\"},\"wordCount\":134,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/30\\\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/30\\\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/30\\\/whole-genome-sequencing-analysis-of-cnv-using-low-coverage-and-paired-end-strategies-is-efficient-and-outperforms-array-based-cnv-analysis\\\/\",\"name\":\"Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis (Contributed by Dr. Bo Zhou) - 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