The Yu laboratory conducts genome-wide and world-wide analyses of genetic determinants of autism to reveal its underlying genomic architecture, and neurobiological underpinnings.
Human Gene Knockouts in Autism
We are studying whole exome sequencing data from several thousand children with ASD recruited via the Autism Sequencing Consortium, and have uncovered a striking enrichment of biallelic gene knockouts, especially in females. Analyses of these datasets in comparison to controls and large reference databases like ExAC have led to the identification of knockouts in several dozen novel candidate genes, including targets of special neurobiological interest involved in glutamatergic and serotonergic signaling.
Genetic Insights into other Disorders of Human Cognition
Our laboratory has identified other rare mutations that link together classic neurobiological signaling pathways with previously unappreciated human phenotypes, including WDR62 (microcephaly and centriole duplication), DHCR24 (autism and cholesterol biosynthesis), and GUCY1A3/GUCY1B3 (linking intellectual disability and nitric oxide signaling).
Translational Pediatric Genomic Medicine
We are developing methods and models for using genomics in the care of patients and conversely, accelerating translational discovery by integrating research with patient care. Dr. Yu is an investigator in Babyseq, a project to critically evaluate genome sequencing as a replacement for newborn screening, and in parallel we are studying the integration of genome sequencing with bedside care of sick patients in the NICU. Dr. Yu is also active in the Genomics Research and Innovation Network (GRIN), a multi-institutional collaborative effort to build a bioinformatics infrastructure for sharing patient clinical and genomic data to improve care and accelerate discovery.