General Information
- Analysis ID
- OEZ014524
- Analysis Name
- Whole genome sequecing analysis of IRD families
- 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.
Analysis Information
- Analysis Type
- De Novo Assembly
- Pipeline
Target
Analysis Data
Submitter Information
- Create Date
- 2023-12-18
- Last Modified
- 2023-12-18
- Submission
- Xin Li