Edited by:
Leslie D. Kulikowski, MSc, PhD, DSc, Coordinator of the Laboratory of Cytogenomics and Molecular Pathology, University of São Paulo, Brazil
Submission Status: Open | Submission Deadline: 15 August 2025
Epigenomic and Structural Variability in the Human Genome: From Developmental Disorders to Functional Genomic Landscapes
About the Collection
This Collection aims to explore the complex interplay between structural variants (SVs) and epigenomic modifications that shape the human genome’s architecture and functionality. While structural variants - such as copy number variations, translocations, and inversions - can directly influence gene dosage and disrupt regulatory regions, epigenomic modifications, including DNA methylation and histone modifications, further refine the genomic landscape. Together, these variations play essential roles not only in developmental disorders but also in a wide range of human traits and diseases.
This Collection invites cutting-edge research and comprehensive reviews that examine how these genomic and epigenomic alterations contribute to diverse clinical outcomes. We are especially interested in studies that reveal novel mechanisms by which structural and epigenomic variants interact, influence genome organization, and impact gene expression and cellular functions across various tissues and developmental stages. This broader approach allows us to understand the role of genomic architecture beyond developmental delays and malformations, encompassing other complex diseases and traits affected by genome variability.
Objectives
1. To characterize the impact of structural and epigenomic variants on genome organization, gene regulation, and cellular functions, thereby enhancing our understanding of genomic architecture's role in health and disease.
2. To investigate the contribution of genomic and epigenomic variability in the pathogenesis of developmental disorders, complex traits, and other diseases, with a focus on identifying common and unique mechanisms.
3. To explore the interplay between structural and epigenomic variants, examining how they collectively shape phenotypic outcomes and susceptibility to diseases.
4. To promote cross-disciplinary approaches that integrate genomics, epigenomics, bioinformatics, and clinical studies, fostering a holistic view of genome function and variability.
5. To encourage the development of innovative methodologies for detecting and interpreting structural and epigenomic variants, aiming to improve diagnostics, prognostics, and personalized therapeutic strategies.
By bringing together a more comprehensive body of work, this Collection aspires to advance our understanding of how structural and epigenomic variability contribute to the functional landscape of the human genome, offering insights into normal development and disease processes.
There are currently no articles in this collection.
Submission Guidelines
Back to topThis Collection welcomes submissions of original research and review articles. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal.
Articles for this Collection should be submitted via our submission system, Snapp. Please, select the appropriate Collection title “Epigenomic and Structural Variability in the Human Genome: From Developmental Disorders to Functional Genomic Landscapes" under the “Details” tab during the submission stage.
Articles will undergo the journal’s standard peer-review process and are subject to all the journal’s standard policies. Articles will be added to the Collection as they are published.
The Editors have no competing interests with the submissions which they handle through the peer-review process. The peer-review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.