Automating library preparation for rapid WGS-based diagnosis of rare diseases in the neonatal intensive care unit

30 Nov 2023

In this case study, the Genomics Center of Excellence (CoE) at Al Jalila Children’s Specialty Hospital in Dubai has collaborated with Illumina and employed Hamilton liquid handlers for automating the library preparation of a rapid whole-genome sequencing (rWGS)-based testing project named 'Little Falcon'. The study involves sequencing 200 children and their parents in the neonatal intensive care unit, aiming to showcase the effectiveness of this approach in expediting diagnoses and improving overall patient care. The case study outlines how the Genomics CoE enhanced accuracy, reproducibility, walk-away time, throughput, and flexibility through the automation of the rWGS workflow using Hamilton liquid handlers.