Pediatric study using genome sequencing
This study used whole genome sequencing to assess genome variants from DNA from pediatric individuals seen in genetics clinic who were thought to have genetic conditions.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
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 |
|---|---|---|---|
| EGAD00001008011 | Illumina HiSeq 2500 | 1 |
| Publications | Citations |
|---|---|
|
Application of full-genome analysis to diagnose rare monogenic disorders.
NPJ Genom Med 6: 2021 77 |
19 |