a retrospective case study in epileptic encephalopathies
Release date:
2021-04-29
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.
For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.
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HRA000748.xlsx