Study
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.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001008105 |
Exome sequencing samples from the Acute Care Flagship, Illumina sequencing.
|
Illumina HiSeq 4000 | 85 |
Who archives the data?
