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
EGAS00001005430 Other

Study Description

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

Who archives the data?

There are no publications available