The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

To evaluate the clinical utility of rapid exome sequencing (rES) in critically ill children with likely genetic disease using a standardized process at a single institution. To provide evidence that rES with should become standard of care for this patient population.

Source: The Journal of Pediatrics - June 14, 2020 Category: Pediatrics Authors: Amanda S. Freed, Sarah V. Clowes Candadai, Megan C. Sikes, Jenny Thies, Heather M. Byers, Jennifer N. Dines, Mesaki Kenneth Ndugga-Kabuye, Mallory B. Smith, Katie Fogus, Heather C. Mefford, Christina Lam, Margaret P. Adam, Angela Sun, John K. McGuire, Rob Tags: Original Articles Source Type: research