Illuminating the Noncoding Genome in Cancer Using Artificial Intelligence

Understanding the vast noncoding cancer genome requires cutting-edge, high-resolution, and accessible strategies. Artificial intelligence is revolutionizing cancer research, enabling advanced models to analyze genome regulation. This review examines illustrative examples of noncoding mutations in cancer, focusing on both key regulatory elements and risk-associated variants that remain poorly understood, and compares key artificial intelligence models developed over the last decade for identifying functional noncoding variants, predicting gene expression impacts, and uncovering cancer-associated mutations. The discussion of the goals, data requirements, features, and outcomes of the models offers practical insights to help cancer researchers integrate these technologies into their work, regardless of computational expertise. This article is part of a special series: Driving Cancer Discoveries with Computational Research, Data Science, and Machine Learning/AI.