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Updated: Sep 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Rapid Exome and Genome Sequencing in the Intensive Care Unit
Michael Muriello1, Donald Basel1
1Genetics, Department of Pediatrics, Medical College of Wisconsin, 9000 W. Wisconsin Avenue, MC 716, Milwaukee, WI 53226, USA.
Abstract:
Rapid genomic sequencing has become a powerful diagnostic tool for critically ill children. Accumulated data support clinical utility. Advances in sequencing technology have improved reliability of rapid results and reduced turnaround times. Cost savings to health care institutions are not only the result of reduced sequencing charges (which have paralleled advances in sequencing technology), but also and more specifically have impact on diagnosis-specific medical management and reduced length of hospitalization. The use of genomic sequencing in critical care is still primarily limited to academic centers but will ultimately become the wider-spread standard of care for select patients.
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