Paediatric genomics is an immature but rapidly evolving field that seeks to diagnose those affected by rare diseases the most, the children.
Definitive diagnostic information greatly assists compassionate and effective care. The UCL Great Ormond Street Institute of Child Health has described an end-to-end workflow for the use of rapid WGS for diagnosis in critically ill children in a UK National Health Service (NHS) diagnostic setting.
As a part of this workflow, the Genalice solution enabled the researchers to reduce processing time per trio from 144 hours to 60 minutes without compromising for quality. The manuscript is currently published on the bioRxiv website.