Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
|Study ID||Alternative Stable ID||Type|
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.
Study Datasets 1 dataset.
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Exome sequencing samples from the Acute Care Flagship, Illumina sequencing.
|Illumina HiSeq 4000||85|