Research: Dr. Jarvik is interested in the genetic basis of complexly inherited disease and has a long-standing interest in biomedical ethics. In addition to many collaborations, including GWAS studies of multiple phenotypes and exomic analyses of Mendelian disorders, Dr. Jarvik's ongoing research focuses on these major areas:

Complex disease discovery and prediction. Exome sequence and genome-wide association studies (GWAS) of phenotypes from clinical electronic medical records in the electronic Medical Records and GEnomics (eMERGE) consortium. This consortium includes over 105,000 participants at 9 sites. Phenotypes of interest include colorectal cancer, white blood cell count, susceptibility to infection (including COVID-19), lipid disorders and carotid artery disease.

Genomic medicine implementation.
Dr. Jarvik is a PI of the network funded by NHGRI. In addition to a large legacy dataset, eMERGE is now working to implement polygenic risk scores for 10 common disease in 25,000 participants across 10 sites, including 2500 UWMC patients. These participants will be followed to determine the impact of this information on their clinical outcomes. Dr. Jarvik has long been interested in the return of genomic results to research participants and the rate of genomic incidental findings.
UDN: Dr. Jarvik is PI in the Undiagnosed Disease Network, funded by the NIH. Patients who have remained undiagnosed despite long diagnostic journeys are evaluated by multiple methods, including multi-Omics, to try to discover the cause of their illness.
All of Us: Dr. Jarvik is a PI with Drs. Wei and Eichler as a sequencing center in a the national genomic medicine cohort study.