We are interested in the structures, functions, and evolutionary histories of human genomes, with an emphasis on applying genomic approaches to study human disease.  Our research includes computational analyses of the relationship between mammalian evolution and modern-day diversity, functional analysis of genetic contributions to gene expression, and the identification and characterization of deleterious mutations that play causal roles in human disease.  We have ongoing projects related to:

  • Applications of comparative genomics to association studies
  • Exome and genome sequencing analysis of human disease
  • Identification and characterization of expression quantitative trait loci
  • Analysis of copy-number variable loci in severe pediatric disease