MHI Seminar Series presents Sebastian Pott, Ph.D., Assistant Professor, Department of Medicine, The University of Chicago, Chicago, IL

Summary of Seminar:  Dr. Pott’s Lab uses single-cell and single-molecule genomics to study how gene regulation shapes healthy and diseased tissue. In this talk, Dr. Pott will discuss two projects: The first uses single-cell chromatin accessibility in cell types of the heart to illuminate cell types associated with genetic risk for atrial fibrillation. By combining cell-type-resolved regulatory regions with fine-mapped AF variants, they prioritize putative non-coding risk variants and introduce a procedure to nominate AF risk genes. The second explores whether single-molecule footprinting (SMF) methods are able to resolve the regulatory effects of genetic variants with higher resolution than established bulk or single-cell genomics approaches. They are applying SMF to a cohort of lymphoblastoid cell lines from 30 individuals to identify quantitative trait loci associated with different properties of SMF data, including accessibility frequency and variability. Together, these studies explore how single-cell and single-molecule genomics can reveal regulatory mechanisms underlying disease risk.