Currently my main focus is developing computational and statistical methods to tease apart the genetics of developmental disorders. This is part of the Deciphering Developmental Disorders study, which is sequencing 12000 children with undiagnosed developmental disorders. I’m screening the hundreds of thousands of genetic variants in each child for the few genetic variants that could cause the child’s disorder. Additionally, I’m trying to discover previously unknown genes where genetic defects cause dominant or recessive diseases.
Previously I studied the genetics of smell. I successfully found genetic variants that strongly determine how well people can smell several food odors.