Feng Yue, PhD
Associate Professor of Biochemistry and Molecular Biology
Pennsylvania State University
3D Genome Organization in Cancer Cells
In this work, we present an integrative framework for comprehensively identifying structural variation and investigating their effect on 3D genome structure. For the first time, we apply next-generation optical mapping, high-throughput chromosome conformation capture (Hi-C) techniques, and whole genome sequencing to detect SVs in up to 29 of normal and cancer cells. With this list of high-confidence SVs, we study their impact on genome organization, including the formation of novel topological associating domains (TADs) and enhancer hijacking events. Furthermore, we observe the disruption of TADs in cancer genomes is associated with changes in the gene expression, including many essential oncogenes. Our results underscore the importance of comprehensive structural variant identification and indicate that non-coding structural variation may be an underappreciated mutational process in cancer genomes.
