Abstract
SummaryThe human genome is packaged into the three-dimensional (3D) nucleus and organized into functional units known as topologically associating domains (TADs) and chromatin loops. Recent studies show that the 3D genome can be modified by genome structural variants (SVs) through disrupting higher-order chromatin organizations such as TADs, which play an essential role in insulating genes from aberrant regulation by regulatory elements outside TADs. Here, we have developed an integrative Hi-C analysis pipeline to generate a comprehensive catalog of TADs, TAD boundaries, and loops in human genomes to fill the gap of limited resources. We identified 2,293 TADs and 6,810 sub-TADs missing in the previously released TADs of GM12878. We then quantified the impact of SVs overlapping with TAD boundaries and observed that two SVs could significantly alter chromatin architecture leading to abnormal expression and splicing of genes associated with human diseases.
Publisher
Cold Spring Harbor Laboratory
Cited by
2 articles.
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