Accession | SAMC1645979 |
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Accession in Other Database | GSA-Human: HRS165331 |
Sample name | SN-EIEE26 |
Title | ST_EIEE26 |
Sample type | Human sample |
Organism | Homo sapiens |
Description | Exome sequencing data of children with epileptic encephalopathy |
Attributes | *This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA000748 in the GSA-Human system. |
Release date | 2021-04-29 |
BioProject Accession | PRJCA004703 |
Submitter | DAN Sun (bloveriver@163.com) |
Organization | Wuhan Children’s Hospital |
Submission date | 2023-06-18 |
Resource name | Description |
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GSA-Human (1) | - |
HRA000748 (Controlled Access) | 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. |