Pediatr Crit Care Me
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Pediatr Crit Care Me · Nov 2019
Observational StudyCritical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses.
Critical illnesses caused by undiagnosed genetic conditions are challenging in PICUs. Whole-exome sequencing is a powerful diagnostic tool but usually costly and often fail to arrive at a final diagnosis in a short period. We assessed the feasibility of our whole-exome sequencing as a tool to improve the efficacy of rare diseases diagnosis for pediatric patients with severe illness. ⋯ The current whole-exome sequencing algorithm, balanced in cost and speed, uncovers genetic conditions in infants and children in PICU, which helps their managements in time and promotes better utilization of PICU resources.