University of California Davis,
Genome Center
Lab Website
Contribution of structural variation to genome structure
Thursday October 11, 2018
2 PM
RRI 101
Abstract: Using Hi-C data we are able to study the genomic interactions, such as enhancer-promoter interactions that are the main mechanism for gene regulation. The analysis of Hi-C data has also provided evidence that genome folds into different compartments and domains. One of these types of domains discovered is called topological associated domains (TADs). Recent studies reported structural variants (SVs) that disrupted the three-dimensional genome structure by fusing two TADs, such that enhancers from one TAD interacted with genes from the other TAD, could cause severe developmental disorders. In this talk, we formally define TAD fusion and provide a combinatorial approach for assigning a score to quantify the level of TAD fusion for each deletion denoted as TAD fusion score. We show that our method correctly gives higher scores to deletions reported to cause developmental disorders as a result of disrupting genome structure in comparison to the deletions reported in the 1000 Genomes Project. We will also show that deletions that cause TAD fusion are rare and under negative selection in general population.
Host: Mark Chaisson
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