The Department of Human Genetics is the home within the Division of Biological Sciences for the study of basic principles of genetics and genomics as applied to human disease. We provide broad training in experimental genetics and genomics, statistical and population genetics, bioinformatics, and clinical genetics. A common theme throughout our research is the application of basic genetic principles and strategies to the study of disease mechanism, disease susceptibility, and the genetic architecture of complex traits. Our faculty bridge between basic and clinical research and train students for careers in academia, industry, and medicine.

Genomic variation. Impact of regulatory variation from RNA to protein

RNA-seq: impact of RNA degradation on transcript quantification

Elephantid genomes reveal the molecular bases of wooly mammoth adaptations to the Arctic

Ancient transposable elements transformed the uterine regulatory landscape and transcriptome during the evolution of mammalian pregnancy

Adaptations to local environments in modern human populations

An estimate of the average number of recessive lethal mutations carried by humans

Evolutionary forward genomics reveals novel insights into the genes and pathways dysregulated in recurrent early pregnancy loss

Evolution of DNA specificity in a transcription factor family produced a new gene regulatory module

Whole-genome resequencing of experimental populations reveals polygenic basis of egg-size variation in Drosophila melanogaster

Rare mutations do not explain "missing heritability" in asthma