Our laboratory has long been involved in studies of human genetic variation and disease. Our work ranges from studies of human limb malformations, autism, hypertension, juvenile idiopathic arthritis, type 2 diabetes, schizophrenia, and a number of other Mendelian and common, complex diseases. For more than a decade, we have also been interested in the evolution of mobile elements and the effects of these elements on the human genome. We have been actively engaged in studies of natural selection in humans, having contributed to the identification of genes involved in high-altitude adaptation in the past. Using whole-genome sequencing, we uncover disease-causing mutations and have estimated the human mutation rate.