Abstract
Purpose : Rapid whole exome sequencing (WES) is a modern tool for the diagnosis of diseases when there is a high index of suspicion for a genetic basis in a critically ill patient. WES is able to sequence a majority of all known genes, and allows one to determine if there is a disease-causing variant that explains the child’s manifestations. We describe a case series of three critically ill children who underwent rapid whole exome sequencing to achieve a diagnosis, and the implications on clinical management. Methods: Cases were identified …
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