Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis -Regulatory Elements

Abstract excerpt

Purpose: Prior studies have demonstrated 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 utilized a machine learning approach, trained on epigenomic data from the adult human retina, to systematically quantify the predicted impact of cis-regulatory variants. Methods: We used...

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