{"id":1338,"date":"2019-09-14T13:19:38","date_gmt":"2019-09-14T13:19:38","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1338"},"modified":"2026-02-24T00:27:45","modified_gmt":"2026-02-24T00:27:45","slug":"impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\/","title":{"rendered":"Impact of DNA source on genetic variant detection from human whole-genome sequencing data (Contributed by Dr. Brett Trost)"},"content":{"rendered":"<p>Whole-genome sequencing (WGS) is the most comprehensive genetic test possible, theoretically allowing the detection of all types of genetic variants. With decreasing DNA sequencing costs, we can now consider applying WGS to worldwide populations, but this requires the collection of DNA samples. While blood is the traditional source of DNA, saliva and buccal (cheek) samples are less invasive to collect and easier to ship. We compared the accuracy of WGS from blood, saliva, and buccal sources, and showed that while blood samples are best, saliva and buccal samples are nearly as good, and thus can be used for population-scale WGS. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/09\/11\/jmedgenet-2019-106281\">https:\/\/jmg.bmj.com\/content\/early\/2019\/09\/11\/jmedgenet-2019-106281<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Whole-genome sequencing (WGS) is the most comprehensive genetic test possible, theoretically allowing the detection of all types of genetic variants. With decreasing DNA sequencing costs, we can now consider applying WGS to worldwide populations, but this requires the collection of DNA samples. While blood is the traditional source of DNA, saliva and buccal (cheek) samples [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\/\">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-1338","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Impact of DNA source on genetic variant detection from human whole-genome sequencing data (Contributed by Dr. Brett Trost) - 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\/2019\/09\/14\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Impact of DNA source on genetic variant detection from human whole-genome sequencing data (Contributed by Dr. Brett Trost) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Whole-genome sequencing (WGS) is the most comprehensive genetic test possible, theoretically allowing the detection of all types of genetic variants. With decreasing DNA sequencing costs, we can now consider applying WGS to worldwide populations, but this requires the collection of DNA samples. While blood is the traditional source of DNA, saliva and buccal (cheek) samples [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-09-14T13:19:38+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:27:45+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\\\/2019\\\/09\\\/14\\\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Impact of DNA source on genetic variant detection from human whole-genome sequencing data (Contributed by Dr. Brett Trost)\",\"datePublished\":\"2019-09-14T13:19:38+00:00\",\"dateModified\":\"2026-02-24T00:27:45+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\\\/\"},\"wordCount\":126,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/impact-of-dna-source-on-genetic-variant-detection-from-human-whole-genome-sequencing-data\\\/\",\"name\":\"Impact of DNA source on genetic variant detection from human whole-genome sequencing data (Contributed by Dr. Brett Trost) - 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