Structural variants are defined as DNA regions exhibiting changes in copy number (deletion, insertion, or duplication), orientation (inversion), or chromosomal location that drive differences between individuals. These structural variants are potentially associated with human complex diseases and traits and are excellent diagnostic biomarkers and therapeutic targets. Recent advances in concepts and technologies make it possible for us to use genome-wide studies to explore the relationship between structural variants and human diseases. Despite these advancements, there remain significant gaps in our understanding of how these genetic alterations contribute to disease mechanisms. Ongoing debates focus on the accuracy and efficiency of current technologies, the need for more comprehensive databases, and the development of cost-effective methods accessible to a broader population. Addressing these gaps is crucial for advancing our knowledge and improving diagnostic and therapeutic strategies.

This research topic aims to highlight the advances in understanding structural variants as dominant genetic factors, providing fair evaluations of current technologies and approaches, fostering collaboration, and catalyzing novel, cost-effective, and affordable technological advances for ordinary people. Specific questions include how structural variants and hereditary fusion genes contribute to human diseases and complex traits, and what genetic and environmental factors activate these genes during development. Hypotheses to be tested include the potential of new technologies to improve the identification and analysis of structural variants and fusion genes.

To gather further insights into the boundaries of structural variants and hereditary fusion genes, we welcome articles addressing, but not limited to, the following themes:

• Associations between structural variants and human diseases and complex traits.
• Associations between hereditary fusion genes and human diseases and complex traits.
• Understanding genetic and environmental abnormalities that activate dormant hereditary fusion genes during development.
• Understanding genetic and environmental abnormalities that activate epigenetic (readthrough) fusion genes during development.
• Evaluating technological advances in studying structural variants.
• Methods, technologies, and algorithms to accurately identify long tandem gene duplications.
• Universal systems to accurately name, store, retrieve, and exchange structural variants and fusion genes.
• Open access databases of structural variants.
• Open access databases of fusion genes.

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Frontiers in Genetics

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