Structural variation
Structural variants (SVs) are large scale changes to the genome, including deletions, duplications, insertions, inversions, and transposable element insertions. These variants can reshape genome structure, alter gene dosage, and disrupt regulatory regions. Because they often occur in repetitive or difficult to assemble regions, SVs have historically been harder to detect than single nucleotide changes.
My work uses long-read genome assemblies and comparative genomics to uncover structural variation in complex regions of the Drosophila melanogaster genome. By resolving variants that are missed by standard reference-based approaches, I am interested in understanding how structural changes contribute to phenotypic diversity and genome evolution.