{"id":63297,"date":"2025-02-20T16:17:04","date_gmt":"2025-02-20T15:17:04","guid":{"rendered":"https:\/\/fhi.nl\/?page_id=63297"},"modified":"2025-02-24T15:54:41","modified_gmt":"2025-02-24T14:54:41","slug":"implementation-and-upscaling-of-automated-diagnostic-wes-and-wgs-workflows-for-multiple-sample-types","status":"publish","type":"page","link":"https:\/\/fhi.nl\/en\/implementation-and-upscaling-of-automated-diagnostic-wes-and-wgs-workflows-for-multiple-sample-types\/","title":{"rendered":"Implementation and upscaling of automated diagnostic WES and WGS workflows for multiple sample types"},"content":{"rendered":"<header id=\"header\" class=\"header header--low header--branch\">\n\n\t\n\t\t\t<div class=\"header__background header__background--graphic\"><\/div>\n\t\n\t<div class=\"container\">\n\t\t<div class=\"header__content\">\n\t\t\t<div class=\"header__first\">\n\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t<h1 class=\"header__title\" >\n\t\t\t\t\tImplementation and upscaling of automated diagnostic WES and WGS workflows for multiple sample types\t\t\t\t<\/h1>\n\n\t\t\t\t<div class=\"header__dots-line\">\n\t\t\t\t\t<svg width=\"431\" height=\"9\" viewbox=\"0 0 431 9\" fill=\"none\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M430.799 4.192a1.136 1.136 0 1 1-2.272-.001 1.136 1.136 0 0 1 2.272 0Zm-27.272 0a1.135 1.135 0 1 1-2.27 0 1.135 1.135 0 0 1 2.27 0Zm-27.27 0a1.136 1.136 0 1 1-2.272-.001 1.136 1.136 0 0 1 2.272 0Zm-27.272 0a1.39 1.39 0 1 1-2.78 0 1.39 1.39 0 0 1 2.78 0Zm-27.78 0a1.645 1.645 0 1 1-3.29 0 1.645 1.645 0 0 1 3.29 0Zm-28.29 0a1.9 1.9 0 1 1-3.799 0 1.9 1.9 0 0 1 3.799 0Zm-28.799 0a2.154 2.154 0 1 1-4.308 0 2.154 2.154 0 0 1 4.308 0Zm-29.308 0a2.41 2.41 0 1 1-4.819 0 2.41 2.41 0 0 1 4.819 0Zm-29.819 0a2.663 2.663 0 1 1-5.326.001 2.663 2.663 0 0 1 5.326-.001Zm-30.327 0a2.919 2.919 0 1 1-5.837 0 2.919 2.919 0 0 1 5.837 0Zm-30.837 0a3.173 3.173 0 1 1-6.345.001 3.173 3.173 0 0 1 6.345 0Zm-31.346 0a3.428 3.428 0 1 1-6.856 0 3.428 3.428 0 0 1 6.856 0Zm-31.856 0a3.683 3.683 0 1 1-7.365 0 3.683 3.683 0 0 1 7.365 0Zm-32.365 0a3.937 3.937 0 1 1-7.875 0 3.937 3.937 0 0 1 7.875 0Zm-32.874 0a4.192 4.192 0 1 1-8.384 0 4.192 4.192 0 0 1 8.384 0Z\" fill=\"#FFF960\"\/><\/svg>\t\t\t\t<\/div>\n\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"header__description\">\n\t\t\t\t\t\t\t<p>Bart van Lier<\/p>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\n\t\t\t\t\t\t\t<div class=\"header__second\">\n\n\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"header__branch-logos\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" src=\"https:\/\/fhi.nl\/app\/uploads\/2024\/02\/Laboratorium-technologie.svg\" class=\"header__branch-logo\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t<\/div>\n<\/header>\n\n\t<div class=\"header__meta\">\n\t<div class=\"container\">\n\t\t<div class=\"header__meta__category\">\n\n\t\t\t\t\t\t\t<div class=\"header__meta__detail\">\n\t\t\t\t\t<div>Branch<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/fhi.nl\/en\/kennishub\/?_branches_kennishub=laboratorium-technologie\" class=\"header__meta__detail--branch\">\n\t\t\t\t\t\t\t\tLaboratory Technology\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\n\t\t\t\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n\n<div class=\"text bg--offwhite\">\n\t<div class=\"container\">\n\t\t\t\t\t<div class='heading-wrapper'><svg width=\"13\" height=\"13\" viewbox=\"0 0 13 13\" fill=\"none\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><circle cx=\"6.394\" cy=\"6.5\" r=\"6.394\" fill=\"#000\"\/><\/svg><h2>2.30 \u2013 2.50 pm<\/h2><\/div>\t\t\t\t\t\t<div class=\"text__content text__content--1-col\">\n\t\t\t<p>The Genome Diagnostics laboratory of the Human Genetics department at Radboud University Medical Center provides rapid whole exome sequencing since 2017, and whole genome sequencing since 2023. Automated workflows are needed more than ever to meet the increasing demand in sample throughput and sequencing capacity, while minimizing the risk of human errors.<\/p>\n<p>We implemented an automated WES workflow based on Twist Bioscience protocol on a Hamilton Microlab\u00ae STAR Liquid Handling platform. This workflow has enabled high-quality exome data with less hands-on time and a decrease in human error potential with end-to-end sample tracking.<\/p>\n<p>Based on the knowledge of the WES workflow, we started a project to sequence whole genomes in a cost-effective and automated workflow. This led to a recently developed new workflow for WGS based on NEBNext PCR Free chemistry to meet the increasing demand in sample throughput and sample types.<\/p>\n<p>During the presentation we will highlight some automation tools that were implemented to increase throughput capacity and discuss the next challenges and workflows, for example NGS Long Read Whole Genome library preparation and sequencing<\/p>\n<p>\u2013 Bart van Lier \u2013<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":23,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"branches":[14],"events":[374],"secretariat":[],"categories":[],"themes_tax":[],"class_list":["post-63297","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Implementation and upscaling of automated diagnostic WES and WGS workflows for multiple sample types - 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