Implementation and upscaling of automated diagnostic WES and WGS workflows for multiple sample types

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, whilst minimizing the risk of human errors.

We implemented an automated WES workflow based on Twist Bioscience protocol on a Hamilton Microlab® 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.

Based on the knowledge of the WES workflow, we started a project to sequence whole genomes in an 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.

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

– Bart van Lier –