I'm interested in understanding structural variants and how they contribute to health and disease. I combine computational methods with functional genomics to uncover the biological consequences of these variants, particularly in regions of the genome that have historically been difficult to analyze, including the 3q29 and amylase loci in the human genome. I'm also particularly interested in how structural variants that overlap the noncoding genome disrupt gene regulation and contribute to disease. Beyond human genomics, I study canine genomes as a model for understanding disease. Dogs develop many of the same cancers as humans, and by investigating structural variants in breeds predisposed to specific diseases, I hope to uncover genetic risk factors that may be relevant across species. I’m especially focused on using long-read sequencing to explore these regions in greater detail. Ultimately, my goal is to decode the structural complexities of the genome and understand how these variations shape biology, evolution, and disease susceptibility.
