Randomized trial investigates gene regulation in retinal cell types, suggesting insights into ocular diseases.
Key Points
This study aims to understand the mechanisms of genetic risk variants linked to ocular diseases by analyzing the epigenomic landscape in retinal cells.
Conducted single-cell multiomics assays assessing gene expression, chromatin accessibility, DNA methylome, and 3D chromatin architecture.
Identified 420,824 unique candidate regulatory elements across 23 retinal cell types.
Developed sequence-based predictors for interpreting noncoding risk variants using deep-learning techniques.
Characterized chromatin states in retinal cell types, revealing evolutionarily conserved and divergent regulatory programs.
Established atlases of the single-cell transcriptome, epigenome, and 3D genome in the human retina.