A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates
Abou Tayoun, Ahmad N.
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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.