Abstract
Balanced and unbalanced structural variants (SVs) contribute to the human genome diversity but have also been associated with human diseases. Deciphering the role of SVs in disease has contributed enormously to our understanding of the human genome. SVs affect genes and regulatory elements but can also rearrange topologically associating domains (TADs), the regulatory scaffold of the genome. They can change the positions of TADs and their boundaries, leading to ectopic gene expression and in some cases disease. The impact of SVs on the 3D genome and on gene expression regulation must be considered when interpreting the pathogenic potential of these variant types. In this review, we present recent advances about the noncoding genome and discuss the effects of SVs on 3D genome architecture and their implications for human genetics and cytogenomics.
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