Our research in structural genomic variation aims to accurately identify and characterize deletions, duplications and other chromosomal rearrangements in the genomes of humans and model organisms and understand the biological implications of these variants. We originally described the widespread presence of structural genomic variants in the human genome and have extended our studies to specific world populations. For over 8 years, we co-led the structural variation group of the 1000 Genomes Project (an international collaboration aimed at identifying and cataloging all genetic variants occurring at a frequency of at least 1% in 26 world populations) and have developed methods for identifying human structural genomic variants at higher resolution from whole genome sequence analyses. Since 2016, we have led the Human Genome Structural Variation Consortium (HGSVC).

We have developed the structural genomic maps for several non-human genomes, including zebrafish, the Chimpanzee, and the Rhesus Macaque. We have further shown that most of the structural variants lie outside of genes but yet can dramatically influence cellular transcriptional profiles. In 2023, we led the sequencing of 43 human Y chromosomes and demonstrated extensive structural variation in the Y chromosome across 150,000 years of human evolution.