Jonathan Sebat is a leader in the field of psychiatric genetics and an expert in the genomic analysis of disease by whole genome sequencing (WGS). His research has made substantial contributions to our current knowledge of the contribution of rare and de novo genetic variants to risk for autism spectrum disorders and other neurodevelopmental and psychiatric traits.
His early research on patterns of structural genetic variation (SV) in the human genome led to the initial discovery of the widespread abundance of SV in the human genome. Application of SV detection methods to neurodevelopmental and psychiatric disorders, including ASD and schizophrenia has served to elucidate the role of rare SVs in these disorders.
Recent genome sequencing studies in multiple cohorts, including the Simons Simplex Collection and SPARK, have made significant progress in further elucidating the complex genetic basis of ASD, in particular the combined effects of de novo mutations, rare inherited variants, polygenic risk and sex. In addition, he has led multiple, large consortium efforts, including as chair of the copy number variant (CNV) analysis group for the Psychiatric Genomics Consortium and as co-chair of the genotyping working group of the Genes 2 Mental Health Network (G2MH), where his group has led interdisciplinary teams on the analysis of genomic and clinical datasets from large cohorts.