Genetic Variations and Gene Expression in Disease
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Biology".
Deadline for manuscript submissions: 31 May 2026 | Viewed by 28
Special Issue Editor
Interests: polymorphisms; mutation; molecular biology; functional assay; association study; lipid metabolism
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The contemporary period of large-scale, high-throughput omics projects has yielded a substantial volume of data, which is now extensively accessible to researchers. In the present age, we are in possession of information regarding gene expression alterations triggered by a multitude of diseases, tissue types, and pharmacological agents. Nevertheless, these datasets still require deeper analysis and motivate the design of new experiments. Over the past two decades, significant efforts have been dedicated to the cataloguing of human genetic variation and the investigation of its associations with phenotypic diversity. The most prevalent genetic variants have previously been examined at the genome-wide level and statistically associated with a range of complex traits, including several common diseases. Despite the valuable biological insights provided by these studies, they have thus far identified only a fraction of the heritable components underlying complex traits, and the task of clarifying the functional links between associated variants and phenotypic outcomes remains considerable. Continued scientific and technological progress, in conjunction with a more precise understanding of the molecular significance of human genetic and transcriptomic variability, will be crucial for the advancement of this field.
In this Special Issue, original research articles and reviews are invited for consideration, with the aim of examining and presenting the impact of human gene expression and genetic variations on diseases from a variety of perspectives. Our focus extends beyond SNPs, encompassing studies on length variations, CNVs, mutations, and gene–environment interactions, as well as association and functional analyses of both complex and monogenic diseases (including both positive and negative findings). Contributions addressing transcriptomic research conducted in silico, in vitro, and in vivo, along with investigations into the molecular biological consequences of human genetic variants, are also encouraged.
Dr. Éva Kereszturi
Guest Editor
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Keywords
- omics
- gene expression
- genetic variation
- SNPs
- polymorphisms
- complex traits
- monogenic disorders
- gene-environment interactions
- transcriptomics
- functional analysis
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