Abstract
Genomic rearrangements, also known as structural variations (SVs), are large scale alterations that changes the DNA structure. They include deletions, duplications, insertions, and other forms that are accompanied by copy number changes as well as inversions, translocations, and other copy-neutral forms. They are an important type of variation, affecting an order of magnitude more base pairs than single nucleotide variations (SNVs) in normal human population. In cancer, several chromosomal translocations have been identified and subsequently became targets of successful treatments. However, the functional impact of genomic rearrangements and their roles in treatment response are largely unexplored. We are developing new computational methods and exploring large scale cancer omics data to infer the mutational mechanisms leading to these alterations, to identify potential disease-driving events, and to study how they affect treatments.
