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Machine Learning Prediction of Non-Coding Variant Impact in Cell-Class-Specific Human Retinal Cis -Regulatory Elements

2025-02-24

Abstract excerpt

Non-coding variants in cis-regulatory elements such as promoters and enhancers contribute to inherited retinal diseases (IRDs), however, characterizing the functional impact of most regulatory variants remains challenging. To improve identification of variants of interest, we implemented machine learning using a gapped k-mer support vector machine approach trained on single nucleus ATAC-seq data from specific cell...

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Literature Corpus work: 6de01cc1-0222-54c3-885e-0f0cf8252b2f
DOI: 10.1101/2025.02.22.638679

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