Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Critically ill infants and children with suspected monogenic conditions underwent ultra-rapid whole exome genetic testing. A molecular diagnosis was established in 51% of the patients. This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients.

Type: Other
Archiver: EGA European Genome-Phenome Archive

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD00001008105	Exome sequencing samples from the Acute Care Flagship, Illumina sequencing.	Illumina HiSeq 4000	85