Jonathan Sebat and his team at the University of California, San Diego are leading the analysis of large genomic data sets on autism. As a leader in the field of psychiatric genetics, and an expert in the characterization of structural variation (SV) by whole-genome sequencing (WGS), Sebat has made major contributions to our current knowledge of genome-wide patterns of germline mutation and the contribution of rare and de novo genetic variants to risk for common disease.
His early research on patterns of SV in the human genome led to the initial discovery of the widespread abundance of SV in the human genome. Sebat also pioneered the SV-based approach to mutation discovery in neurodevelopmental and psychiatric disorders, including autism and schizophrenia. These studies have served to elucidate the role of rare spontaneous and inherited variants in these disorders.