Article

The NSIGHT1 Randomized Controlled Trial: Rapid Whole Genome Sequencing for Accelerated Etiologic Diagnosis in Critically Ill Infants

2017-11-13

Abstract excerpt

<h4>Importance</h4> Genetic disorders, including congenital anomalies, are a leading cause of morbidity and mortality in infants, especially in neonatal and pediatric intensive care units (NICU and PICU). While genomic sequencing is useful for diagnosis of genetic diseases, results are usually reported too late to guide inpatient management. <h4>Objective</h4> To test the hypothesis that rapid whole genome seque...

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Literature Corpus work: 325a80ea-3c17-5eac-85ff-82b2fb762931
DOI: 10.1101/218255

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