Dr. Talkowski is the Director of the Center for Genomic Medicine (CGM) at MGB. The CGM is a large and cross-departmental precision medicine hub encompassing over 50 MGB and Harvard Medical School faculty and over 400 genome scientists pursuing all facets of translational genomics research from surveys of global genetic variation to disease and trait association, precision therapeutic development, and clinical trials. Dr. Talkowski is also an Institute Member in the Program in Medical and Population Genetics at the Broad Institute of MIT and Harvard, where he co-directs several groups and initiatives, including the Neurodevelopmental Variability Initiative (NDV), which aims to advance our understanding of genetic influences on the developing brain and variability in human cognition and behavior.

Dr. Talkowski leads an integrated molecular and computational genomics program focused on the discovery and characterization of genetic variation contributing to human development and disease, with a particular focus on the relationship between genome structure and function in neurological disorders. He co-directs consortia related to autism, Mendelian genetics, fetal genomics, and the creation and maintenance of large-scale genomic resources such as the genome aggregation database (gnomAD), the All of Us Research Program, and the International Fetal Genomics Consortium Repository. Most recently, his team developed a new technology to survey the fetal genome from a simple maternal blood test, thus offering a future alternative to fetal genetic testing following invasive procedures such as amniocentesis in the field of maternal-fetal medicine.