Genetic influences on ASD across the frequency spectrum

Genetic influences on ASD across the frequency spectrum: Ben Neale, Ph.D., Assistant in Genetics, Analytic and Translational Genetics Unit, Massachusetts General Hospital; Assistant Professor, Harvard Medical School; Associate Member, Stanley Center for Psychiatric Disease, Broad Institute

November 18, 2015

The genetic analysis of ASD is accelerating. Increasing sample sizes are revealing risk factors across the allele frequency spectrum. This talk will provide a comprehensive view of the genetic influences on ASD, from common variation through to spontaneously arising variation. For common variation, substantial increases in sample size have started to yield significant common variant association. For rare variation, efforts to aggregate a large scale exome sequencing dataset have sharpened our ability to identify significant genetic risk factors. These studies highlight the importance of taking a comprehensive view of genetic risk and the need to continue increasing sample sizes to build the foundation for understanding the biological mechanisms that drive ASD in the population.