I have worked at the forefront of genomics and structural variation for the last 18 years and use this expertise in my role as an Associate Professor at The Jackson Laboratory for Genomic Medicine (JAX-GM) and the University of Connecticut Health Center (UConn Health). My research focuses on mutational processes underlying structural variation in mammalian genomes and the consequences of this variation. I investigate structural variation through a combination of molecular genetics, genomic sequencing, and bioinformatics techniques. Our work provided a better understanding of the role of transposable elements in generating inter-individual variation, the DNA repair mechanisms underlying human genomic rearrangements, and the consequences of structural variants on patient populations. My laboratory currently works on assemblies of human and other mammalian genomes to drive novel biological insights through the development of better computational methodologies and specific interrogations of sequence-resolved genomes. Through these efforts, we have played a large role within the Human Genome Structural Variation Consortium (HGSVC) since joining this group in 2021; I currently chair the complex structural variation and transposable element working groups. My laboratory comprises five full-time members: two computational scientists, two graduate students, and a post-baccalaureate student. We use computational and bench science techniques to examine the prevalence and genomic consequences of structural variation in mammalian genomes, with a specific focus on transposable elements and rearrangements between difficult to interpret regions of DNA, such as repetitive, homologous sequences.
In addition to mentoring individuals in my laboratory, I train summer science program students, serve as a faculty mentor for two postdoctoral fellows in collaborating labs, and am a PI on the JAX Diversity Action Plan Post-Baccalaureate Program in Genomics (gDAP, R25HG012733) a program that provides mentored research experience for individuals from underrepresented groups who are interested in careers in genome-related fields.