Structural variations are common in the human genome, but their contributions to human diseases have been hard to define. Lupiáñez et al. demonstrate that some structural variants can interrupt chromatin topology, resulting in ectopic enhancer-promoter interactions, altered spatiotemporal gene expression patterns, and developmental disorders.
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Structural variations are common in the human genome, but their contributions to human diseases have been hard to define. Lupiáñez et al. demonstrate that some structural variants can interrupt chromatin topology, resulting in ectopic enhancer-promoter interactions, altered spatiotemporal gene expression patterns, and developmental disorders.
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