| Accession |
PRJCA004703 |
| Title |
a retrospective case study in epileptic encephalopathies |
| Relevance |
Medical |
| Data types |
Exome
|
| Organisms |
Homo sapiens
|
| Description |
The infants diagnosed with EEs were enrolled from a single pediatric epilepsy center between January 2018 and February 2020. Demographic and clinical data were collected. In WES data, the pathogenic SNVs were identified through an in-house pipeline, and pathogenic CNVs were identified by CNVkit. The diagnostic rate were evaluated and the molecular findings were characterized. The application of detecting both SNPs/Indels and CNVs in single test based on WES yielded a high diagnosis rate in EEs. WES may be severed as a first-tier test with cost-effective benefit in EEs. |
| Sample scope |
Multiisolate |
| Release date |
2021-03-15 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
|
81570348
|
|
| National Key Research and Development Program of China
|
|
2016YFC1306202
|
|
|
|
| Submitter |
Dan
Sun (bloveriver@163.com)
|
| Organization |
Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science & and Technology |
| Submission date |
2021-03-15 |
