Epigenomics is defined as the identification and characterization of the epigenome that covers the complete set of epigenetic modifications to the genome of a cell, analogous to genomics and proteomics, the according study of the genome and proteome of a cell, being otherwise impossible through analysis of specific loci. Compared to the relatively static genome, the epigenome is more dynamic in accordance with development stages and in response to environmental stimuli, conferring regulation of gene expression and thereby regulation of biological processes. The epigenetic modifications include modifications in DNA bases and chromatin. DNA modifications, such as 5-methylcytosine (5mC) and its oxidative derivatives (5-hydroxymethylcytosine (5-hmC), 5-formylcytosine (5-fC), and 5- carboxylcytosine (5-caC)) and N6-methyladenosine (m6A), are located on the epi (top) position of the genome DNA. In addition to base modifications, histone modifications, such as methylation, acetylation, and phosphorylation belong to the epigenetic memories as well. These dynamic modifications alter the accessibility of the transcriptional machinery to DNA, ensuring the right regulation of gene expression and thereby the cell processes.

In addition to the dynamic epigenomic regulation, epitranscriptomic regulation plays important roles as well. Epitranscriptomics is defined as the study to identify and characterize the base modifications at the transcriptome level and their role in regulating processes. More than 175 base modifications have been reported, ranging from methylations to hypermethylations in RNA molecules including mRNA, rRNA, tRNA, sncRNAs (miRNAs, piRNAs), cirCRNAs, and lncRNAs. Of the base modifications identified so far, N6-methyladenosine (m6A) has been implicated as the most abundant and important epitranscriptomic player in RNA localization, stability, and translation efficiency. In recent years, new high throughput sequencing techniques, such as Nano-pore sequencing and Pac-Bio sequencing, have significantly facilitated the systematic identification of all the base modifications in both the whole epigenome and epitransciptome. Emerging discoveries have highlighted the link between the aberrant regulation of gene expression at the epigenomic / epitranscriptomic levels and human diseases, like cancers, neurological disorders, heart diseases, hematological diseases, kidney diseases, etc. The studies in recent decades have made a significant contributions to understanding the mechanisms of gene expression regulation and dissection of pathogenesis for multiple diseases on the basis of the epigenome and epitranscriptome, potentially leading to new therapeutic applications.

This Special Issue will focus on the research advances in the epigenomic and epitranscriptomic basis of human diseases. We invite investigators in the field of epigenome and epitranscriptome and human diseases such as neurological disorders, cardiac diseases, hematological diseases, kidney diseases, cancers, and so on, to contribute original research articles as well as review articles that focus on addressing the issues mentioned above.

Potential topics include but are not limited to the following:

• Breakthrough technologies / bioinformatic tools and methodologies for the identification and characterization of base modifications in the epigenome and epitranscriptome, such as NanoPore and Pacific Biosciences sequencing
• Application of next generation sequencing in epigenome/epitranscriptome-wide mapping of the epigenomic and epitranscriptomic markers for human diseases
• Dynamic alteration of base modification markers and epigenomic landscapes in mammalian genomes during development and in response to environmental stimuli such as natural and artificial stresses, as well as aging
• Small molecule drug library screening to identify compounds that could regulate the epigenetic modifications involved in development and human diseases
• Distribution and characterization of base modification markers in genomic DNA, mRNA, rRNA, and tRNA in animal models and clinical patient samples, particularly for neurological disorders, cancers, cardiac diseases, lung diseases, liver diseases, kidney diseases, hematological diseases, etc
• Base modification markers in sncRNA, circRNA, and lncRNA in growth, development, differentiation, reproduction, regeneration, aging, and specific relation to the pathogenesis
• Chromatin remodelling-mediated interactomes among the metabolic pathways involved in human diseases, such as interactions of methylases/demethylases/epigenetic modifiers and other tumour suppressors and oncogenes
• Discovery of epigenetic modifiers that contribute to human diseases pathologically by using epigenetic markers as baits through genetic analysis, bioinformatics, and biological tools
• Recent developments in the aberrant alteration of ncRNAs as criteria for diagnosis of cancers, neurological diseases, and other genetic diseases
• Clinical application of biomarkers and epigenomic / epitranscriptomic modifiers that serve as drug targets for the therapy of human diseases