Watch On-Demand: Implementation and Validation of Covaris AFA® Technology and Instrument in Automated Workflows for Clinical Genomics
Tom Hofste, PhD, Head of the Core Facility, Genome Diagnostics at Radboud University Medical Center, presents a detailed case study in clinical genomics automation, tracing his lab’s workflow from early single-sample DNA shearing in 2009 through today’s fully automated exome, whole genome, and long-read sequencing pipelines built on Covaris Adaptive Focused Acoustics® Technology.
The presentation covers the lab’s transition to in-house automated exome sequencing in 2016, including Hamilton Starlet integration for DNA shearing, dilution, and plate transfer, and a 55-SNP genotyping QC step that verifies sample identity before diagnostic reporting. Hofste details the lab’s 2023 expansion into automated short-read whole genome sequencing — scaling to over 10,000 genomes in a single year — along with the methodology shift from tagmentation-based shearing to Covaris mechanical fragmentation paired with an NEB library prep kit.
The talk closes with a first look at validation data comparing the PCR-free Covaris truCOVER® whole genome library prep kit against the lab’s established NEB diagnostic workflow, plus an overview of the facility’s emerging long-read genome sequencing work on PacBio platforms.