A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates

Abstract

Introduction: A large body of evidence now supports use of rapid whole-genome sequencing (rWGS) as a cost-effective tool for timely diagnosis and tailored management of critically ill children with rare diseases. However, efficacy has so far been demonstrated only in high-income settings, which has led to disparate implementation of and variable access to rWGS.