Single-cell multiome and enhancer connectome of human retinal pigment epithelium and choroid nominate pathogenic variants in age-related macular degeneration
Sean K. Wang, Jiaying Li, Surag Nair, Reshma Korasaju, Yun Chen, Yuanyuan Zhang, Anshul Bharat Kundaje, Yuwen Liu, Ningli Wang, Howard Y. Chang
The paper creates a single-cell multiome atlas of RPE and choroid tissues to identify pathogenic variants and mechanisms in AMD using HiChIP, Activity-by-Contact, and STARR-seq.
bioRxiv · Mar 21, 2025 · PreprintGenomics