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Topologically associating domain-rare copy-number variants are positioned to perturb 3-dimensional regulatory genomic interactions in spina bifida cases. A-C. Schematic depicting miswiring of enhancer-promoter contacts due to enhancer and boundary element variants. D. Hi-C interaction frequency map of human embryonic stem cell topologically associating domains and shown alongside a rare deletion represented in Integrative Genomics Viewer that was detected in an spina bifida case.
