Article

Single-cell multiome of the human retina and deep learning nominate causal variants in complex eye diseases

2022-03-10

Abstract excerpt

<h4>ABSTRACT</h4> Genome-wide association studies (GWAS) of eye disorders have identified hundreds of genetic variants associated with ocular disease. However, the vast majority of these variants are noncoding, making it challenging to interpret their function. Here, we present a joint single-cell atlas of gene expression and chromatin accessibility of the adult human retina with >50,000 cells, which we used to a...

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Literature Corpus work: 318692d4-21ac-51fa-b4c6-067e66aaf97d
DOI: 10.1101/2022.03.09.483684

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