Table of Content

Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data

Submission Deadline: 31 August 2022 (closed)

Guest Editors

Dr. Jianxin Shi, Shanghai Jiao Tong University, China.

Dr. Jun Yang, Shanghai Jiao Tong University, China.

Dr. Chang Gu, Tongji University School of Medicine, China.


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


On the promise of the above sequencing-based approaches, simultaneously, integrating multiscale biological data (imaging, pathological and clinical data) will greatly help identifying specific genetic and epigenetic markers for diverse complex diseases. Molecular genetics and epigenetics 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, statistics or computer-based methods. There is an urgent need to incorporate these identified disease markers within their risk analysis models, and being served as a powerful tool for personalized medicine in the aspect of complex diseases, contributing to superior diagnosis, prognosis, and treatment.


In this Special Issue, we welcome original research, review, methods, brief report and case report associated with genetic and epigenetic markers for complex diseases that include, but are not limited to the following:


• Integrative genomics studies identify new genes associated with specific complex diseases.

• Statistical methods and database for integrating multiscale biological data.

• Epigenetic studies identify 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., which are involved in complex diseases.

• Gene-Environment studies identify disease diver gene or modifier gene or risk gene via interaction with various environmental factors.

• Bioinformatics, computational analysis, or predictions of 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 mechanisms studies using omics approaches and new biological models.

• Potential therapeutic targets for complex diseases.

• Clinical diagnosis and biomarkers for complex diseases.


Genetic and Epigenetic Markers, Complex Diseases, Biological Models, Genes, Diagnosis

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