My laboratory studies chromosomal abnormalities in cancer. Examples of such alterations include aneuploidy, whole-genome duplication, and complex chromosomal rearrangements. Despite their prevalence, the origin and functional impact of these alterations in cancer evolution remains an unsolved problem. My research addresses this question from three different angles using DNA sequencing as a high-throughput, high-resolution assay.
The first focus of my research is to characterize chromosomal abnormalities at high resolution. The ultimate goal of this project is to assemble the end-to-end sequence of aberrant chromosomes (10-100 Mb) in cancer genomes and use this information to infer the history of cancer genome evolution. After determining the sequence of rearranged chromosomes, the next focus of my laboratory is to identify the molecular/cellular mechanisms that generate these alterations combining single-cell DNA sequencing with cell biology experiments. Finally, we use single-cell transcriptome analysis to study transcriptional variation due to chromosomal abnormalities with a focus on understanding the tissue-specific functional impact of these alterations.