With the rapid development of multiple sequencing methods, genetic studies have seen explosive growth and have identified various risk variants and pathways related to the underlying pathogenesis, genetic, and epigenetic mechanisms of complex human diseases. Sequencing-based technologies include high throughput RNA/DNA sequencing, RNA/DNA methylome-seq, T-cell receptor-seq, ATAC-seq, single-cell sequencing, etc. The molecular era has uncovered aspects of genetics, epigenetics, and even environmental factors that, all together, affect susceptibility to a variety of complex diseases.

In addition to the above-mentioned sequencing-based approaches, integrating multiscale biological data (imaging, pathological, and clinical data) will greatly aid in identifying specific genetic and epigenetic markers for diverse complex diseases. Molecular genetics, epigenetic features, and the mechanisms of the onset of different complex diseases are of great importance to understand and verify new targets. All the markers have the potential for disease diagnosis, progress, and treatment, especially for personalized medicine. However, the major challenge is to extract novel disease risks from multiscale biological data using biological, statistical, or computer-based methods. There is an urgent need to incorporate these identified disease markers within their risk analysis models to serve as a powerful tool for personalized medicine for complex diseases, contributing to superior diagnosis, prognosis, and treatment.

In this Special Issue, we welcome original research and review articles concerned with genetic and epigenetic markers for complex diseases.

Potential topics include but are not limited to the following:

• Integrative genomics studies identifying new genes associated with specific complex diseases
• Statistical methods and databases for integrating multiscale biological data
• Epigenetic studies identifying disease pathogenesis mechanisms and potential therapeutic targets for specific complex diseases
• DNA methylation and RNA methylation markers or histone modification markers including acetylation, ubiquitination, etc., that are involved in complex diseases
• Gene-environment studies identifying disease diver gene, modifier genes, or risk genes via interaction with various environmental factors
• Bioinformatics, computational analysis, or predictions using public databases for identifying novel disease markers
• Cellular and animal models revealing the genetic and epigenetic markers and their roles in mechanisms of pathogenesis and progression in complex diseases
• Disease mechanism studies using omics approaches and new biological models
• Potential therapeutic targets for complex diseases
• Clinical diagnosis and biomarkers for complex diseases