Advances in Epigenomic Sequencing and Their Applications in Cancer Diagnostics

Cancer, a globally prevalent and life-threatening disease, remains a major area of focus in biomedical research. However, its substantial heterogeneity and complex pathogenesis continue to pose significant challenges for accurate diagnosis and effective treatment. The rapid advancement of epigenomic sequencing technologies has opened avenues by uncovering the epigenetic hallmarks and underlying pathology of cancer. As a result, these technologies have become invaluable tools in advancing cancer diagnostics and connecting research with clinical applications. This review briefly overviews epigenomic modifications and their significance in cancer diagnostics, highlighting potential epigenomic biomarkers with clinical applicability. We also examine emerging techniques in bulk and single-cell sequencing approaches, alongside spatial tools, highlighting their integration with multiomics technologies for cancer diagnostics. Particular attention is given to the analysis of key epigenetic characteristics, such as DNA methylation, histone modifications, and chromatin accessibility. Additionally, we summarize the diagnostic applications of these technologies and evaluate their current adoption in clinical settings. Challenges, limitations, and future directions for advancing epigenomic sequencing toward routine clinical diagnostics are also discussed. This review aims to provide scientists and clinicians with a comprehensive resource, encouraging further exploration and adoption of epigenomic sequencing technologies to drive progress in precision medicine.