Methods in DNA methylation array dataset analysis: A review

Understanding the intricate relationships between gene expression levels and epigenetic modifications in a genome is crucial to comprehending the pathogenic mechanisms of many diseases. With the advancement of DNA Methylome Profiling techniques, the emphasis on identifying Differentially Methylated Regions (DMRs/DMGs) has become crucial for biomarker discovery, offering new insights into the etiology of illnesses. This review surveys the current state of computational tools/algorithms for the analysis of microarray-based DNA methylation profiling datasets, focusing on key concepts underlying the diagnostic/prognostic CpG site extraction. It addresses methodological frameworks, algorithms, and pipelines employed by various authors, serving as a roadmap to address challenges and understand changing trends in the methodologies for analyzing array-based DNA methylation profiling datasets derived from diseased genomes. Additionally, it highlights the importance of integrating gene expression and methylation datasets for accurate biomarker identification, explores prognostic prediction models, and discusses molecular subtyping for disease classification. The review also emphasizes the contributions of machine learning, neural networks, and data mining to enhance diagnostic workflow development, thereby improving accuracy, precision, and robustness. [Display omitted] •Aberrant methylation sites can function as biomarkers and are applicable for the diagnosis of diseases.•Several global repositories show easy availability of methylation to begin the analysis of the DNA methylation datasets.•Clustering methods are extensively applied to group DNA methylation data into meaningful categories.•Utilization of DMR analysis strategies and algorithms proves to be effective in identifying aberrant methylation sites.•Annotation offers a thorough biological perspective of the results derived from the analysis.