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Use of exome sequencing for infants in intensive care units ascertainment of severe single-gene disorders and effect on medical management

JAMA Pediatrics Oct 25, 2017

Meng L, et al. - This research resolved to figure out the diagnostic yield and use of clinical exome sequencing, among critically ill infants. It was determined that the exome sequencing served as a powerful instrument for the diagnostic evaluation of critically ill infants with suspected monogenic disorders in the neonatal and pediatric intensive care units. A prominent impact was displayed by its utility on clinical decision making.
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