Dr. Carpten's research interests are broad, but all share the same theme of “translational medicine” — a term used to describe projects that combine basic science research with medical applications.

Dr. Carpten earned his Ph.D. from The Ohio State University and completed further training at the National Human Genome Research Institute (NHGRI) at the National Institutes of Health. While at NHGRI, he was one of the lead authors on the first paper to look at prostate cancer through a genome-wide lens, scanning the entire genome for genetic variants that were very common or very uncommon in men with prostate cancer. Taking this approach, he was able to identify new genes that were important in this disease. He was also the first to look at prostate cancer susceptibility in African-American populations.

Dr. Carpten’s research has focused on developing methods for large-scale genomic research, much of which he has used to study cancer. A recent paper he contributed to looks at how to better identify and confirm rare variants when sequencing DNA. It is generally thought that disease-causing variants should be rare when looking across many people: individuals who have disease-causing variants are more likely to die so there will be fewer of them in our sample. Thus, we should focus on the rare variants we do see as the most likely to be interesting.

The problem is that when you find a super rare event, you have to worry that what you’re seeing is actually an error in measurement, rather than a real signal. How can you corroborate that an interesting variant is real if you’re specifically focused on variants that are only found in a single person? Dr. Carpten’s paper uses complex statistical methods to combine information from multiple variants to identify those that impact the same or related genes and are therefore more likely to be real.