His research is focused on understanding the impact of population structure and natural selection on human genetic variation, developing innovative ways to discover genetic variants underlying monogenic disorders and complex traits, and testing novel ways to translate genomic advances into practice to advance implementation of precision genetic medicine. He has contributed to the discovery of hundreds of genes for Mendelian conditions, understanding the relationship between genetic ancestry and notions of race, and developed innovative ways to share data (i.e., MyGene2) and manage return of genetic testing results (i.e., My46) from exome and whole genome sequencing in both research and clinical settings. He co-authors a popular textbook entitled Medical Genetics and has recently been appointed as the Editor-in-Chief of Human Genetics and Genomics Advances.