General Information
- Project ID
- OEP004860
- Project Name
- Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
- Description
- A total of 271 unresolved IRD patients and their available family members (n=646) were screened using WGS technology to identify pathogenic SVs and intronic variants in 792 known ocular disease genes. The pathogenicity of all identified variants was evaluated through a combination of factors including allele frequencies (AFs) in the general population, functional annotation, and inheritance pattern analysis.
Project information
Author Information
- Create Date
- 2023-12-18
- Last Modified
- 2023-12-18
- Submission
- Xin Li
- Shanghai Institute of Nutrition and Health,CAS