Our laboratory has long been involved in studies of human genetic variation and disease. We have been involved in 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 been involved in research on 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 recently identified genes involved in high-altitude adaptation. We have used whole-genome sequencing to uncover disease-causing mutations and to estimate the human mutation rate.