Advances in Human Structural Variation: Detection, Functional Impact, and Integrative Genomic Analysis

Structural variations, or SVs, are genomic alterations typically larger than 50 base pairs that affect chromosome structure, including deletions, duplications, insertions, inversions, translocations. These variants are a major source of interindividual genomic variability in humans and can disrupt coding regions, alter regulatory elements, reshape chromatin organization, and influence gene expression and cellular function. As a result, SVs contribute substantially to phenotypic diversity, disease susceptibility, aging, and treatment response. Improving our understanding of human structural variation is therefore essential for clarifying genome function and advancing precision medicine, disease prevention, and genomic diagnosis.Recent advances in sequencing technologies have transformed the study of SVs in human populations and clinical cohorts. Whole genome sequencing is now widely used in large scale human genomics initiatives, while long-read sequencing has improved the detection of structural rearrangements, repeat expansions, and other difficult to resolve complex genomic events. Single-cell technologies enable resolution at individual cell level, while multi-omics approaches facilitate the characterization of the functional impact of structural variations. At the same time, important challenges remain in achieving accurate detection across platforms, interpreting functional consequences, integrating multiple molecular layers, and translating these findings into biologically and clinically meaningful insight.This Research Topic focuses on human structural variation and welcomes submissions that connect the detection, interpretation, and application of SVs to genome function, interindividual variability, and clinically relevant phenotypes. We are particularly interested in studies that provide biological, functional, population-level, or translational insight into structural variation in human genomes, especially when findings are linked to human cells, tissues, disease mechanisms, diagnosis, prognosis, treatment response, or precision medicine. Methodological advances are also welcome when they demonstrate clear value for improving the understanding of human genomic variation and its functional or clinical consequences.We welcome original research, methods papers, and reviews in areas such as:1. Detection of human structural variation, copy number variation, and repeat expansions using whole genome sequencing, long read sequencing, single cell sequencing, exome sequencing, or other relevant genomic technologies, with emphasis on accuracy, sensitivity, scalability, and clinical or population scale applicability.2. Population scale analyses of human SVs, including studies of allele frequency, ancestry related variation, rare and common variant architecture, and links between structural variation and human phenotypic diversity or disease risk.3. Benchmarking and evaluation of SV detection approaches, particularly where these studies improve robustness, reproducibility, or interpretability in human genomic, clinical, or large cohort settings.4. Functional interpretation of SVs, including integration with transcriptomics, epigenomics, proteomics, chromatin accessibility, three dimensional genome organization, or regulatory annotations to define the molecular and phenotypic consequences of structural variants.5. Integrative computational approaches that predict or prioritize the functional impact of structural variants in humans, including machine learning, network analysis, and multi-omics frameworks, especially where supported by experimental validation, orthogonal evidence, or clear translational relevance.6. Clinical and translational applications of SV analysis, including studies that improve genomic diagnosis, patient stratification, prognosis, therapeutic selection, or implementation in precision medicine.7. Visualization tools, workflows, analytical pipelines, and software resources that enable rigorous and reproducible analysis of human structural variation, provided that their utility is demonstrated through meaningful application to human genomic questions.Submissions should provide detailed scientific background, reproducible methods, and insightful discussion of the functional and translational significance of structural variation in human genomics. Studies that are primarily descriptive, limited to public data only bioinformatic analyses without sufficient functional or translational advance, or centered on nonhuman systems without clear relevance to human variation are less suitable for this Research Topic. Topic editors: Arijit Panda, Gyan Prakash Mishra Source: https://www.frontiersin.org/research-topics/80468/advances-in-human-structural-variation-detection-functional-impact-and-integrative-genomic-analysis