Purpose <p>This review explores the integration of artificial intelligence (AI) with epigenetics to advance understanding of gene expression regulation and its implications for human health. It aims to elucidate the current state and future directions of AI applications in epigenetics, focusing on disease diagnostics, therapeutic targeting, and personalized medicine approaches.</p> Methods <p>A comprehensive literature review was conducted, selecting studies exemplifying the integration of AI with epigenetic data analysis, biomarker discovery, and therapeutic innovations.</p> Results <p>Significant progress has been achieved in utilizing AI to analyze epigenomic data, leading to insights into disease mechanisms, identification of epigenetic biomarkers, and the development of novel therapeutic strategies.</p> Conclusions <p>The integration of AI into epigenetics holds promise for transforming disease diagnosis and treatment, emphasizing the need for continued research and development in this interdisciplinary field. The synergy between AI and epigenetics offers groundbreaking insights into gene regulation and disease, underscoring their potential to advance precision medicine and therapeutic interventions.</p>