Whole Exome Sequencing in an Automated Workflow

The continuous demand for more, faster and cheaper tests makes automation of a clinical laboratory inevitable.

At the end of 2010, Genome Diagnostics Nijmegen was the first Dutch laboratory to implement whole exome sequencing (WES) in a clinical setting. Since then, more than 45,000 clinical exome sequencing tests have been performed. This high-throughput automated infrastructure was expanded in 2017 with a rapidWES workflow to provide NICU patients with a rapid diagnosis with a turnaround time of five to seven days.

The manual workflow has been moved to an automated workflow using Hamilton Microlab® STAR Liquid Handling Platforms.

The laboratory's production facility is embedded in the Radboud Genome Technology Center (RGTC), so that research groups (local, national and international) also have access to the standardized high-throughput sequencing workflows used for clinical care. A high-performance computer cluster is available to support data analysis and data storage.

Tom Hofste from Radboudumc discusses the automation steps of the lab during LabAutomation 2023. 

You can follow his lecture. Then register for a visit at LabAutomation 2023, on March 21 in the 1931 conference center in Den Bosch.