Stephan Sanders trained as a pediatric physician in the UK before pursuing a research career in genomics and bioinformatics. He is currently an associate professor at the University of California, San Francisco.
His work has helped characterize the role of de novo mutations in the etiology of ASD and identified multiple ASD risk loci, including duplications of the 7q11.23 Williams syndrome region (Sanders et al., Neuron, 2011) and de novo loss-of-function mutations in the sodium channel gene SCN2A (Sanders et al., Nature, 2012). Working with the Autism Sequencing Consortium (ASC), he helped implement this approach to gene discovery to analyze over 25,000 samples and identify 71 ASD risk loci by integrating copy number variant and exome data (Sanders et al., Neuron, 2015). This approach has since led to gene discovery in a rapidly expanding list of childhood disorders, including congenital heart disease, developmental delay, central nervous system malformation and epileptic encephalopathy.
Sanders is a member of the steering committee for the Whole Genome Sequencing in Psychiatric Disorders Consortium that is collating consistently analyzed whole-genome sequencing (WGS) data for large-scale data analyses (Sanders et al., Nat. Neurosci., 2017). He co-leads the ASC WGS working group with Michael Talkowski and Bernie Devlin, which developed the Category-Wide Association Study (CWAS) and de novo risk score (DNRS) methods for WGS analysis (Werling et al., Nat. Genet., 2018).