Twenty-eight patients with suspected RETT underwent testing with Clinical Exome SolutionTM CES_V2 by SOPHiA GENETICS.
| Accession | PRJNA1011463 |
| Data Type | Raw sequence reads |
| Scope | Multispecies |
| Publications | - Published online: Brito F et al., "Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis", Frontiers in Genetics, 2024;15
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| Grants | - "SOLVING THE UNSOLVED: AN INTERDISCIPLINARY EVALUATION OF PERSONAL, SOCIAL AND HEALTH SYSTEM EFFECTS OF THE USE OF GENOMIC STRATEGIES FOR RARE UNDIAGNOSED DISORDERS" (Grant ID 1211411, Chilean National Agency for Research and Development)
- "Strenghting and development of biomedical research throught the adquisition of a high perfomance computer cluster" (Grant ID EQM150093, Chilean National Agency for Research and Development)
- "Scalable and massive genotyping platform: Accelerating biotechnological applications and genomic research in Chile" (Grant ID EQM220062, Chilean National Agency for Research and Development)
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| Submission | Registration date: 31-Aug-2023
Universidad del Desarrollo |
| Relevance | Medical |
Project Data:
| Resource Name | Number
of Links |
|---|
| Sequence data |
| SRA Experiments | 28 |
| Other datasets |
| BioSample | 28 |