Article

Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal <i>Cis</i> -Regulatory Elements

2021-10-20

Abstract excerpt

<h4>Purpose</h4> Prior studies demonstrate the significance of specific cis -regulatory variants in retinal disease, however determining the functional impact of regulatory variants remains a major challenge. In this study, we utilize a machine learning approach, trained on epigenomic data from the adult human retina, to systematically quantify the predicted impact of cis -regulatory variants. <h4>Methods</h4>...

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Literature Corpus work: f917ef8b-b8ec-571e-bc45-d2588ccaf308
DOI: 10.1101/2021.10.19.464837

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