Join us for an insightful bioinformatics presentation by Charles E. Breeze, PhD, Research Scholar, Cancer Research Training Award (CRTA), National Cancer Institute (NCI), National Institute of Health (NIH).

Title: "Linking Disease Genetic Susceptibility and Epigenomics through Integrative Analyses at Scale"

Abstract:  One primary challenge in genome-wide association studies (GWAS) is the functional interpretation of thousands of non-protein-coding disease-associated variants. To address this, we have developed a suite of computational frameworks that leverage high-dimensional epigenomic datasets to nominate candidate causal variants, genes, and cell types. We show how the integration of GWAS data with epigenomic profiling maps (including DNase I hotspots and histone mark broad peaks) allows for the systematic identification of cell type-specific regulatory signatures. By applying these analyses at scale across multiple levels of annotation, we can move from identifying key tissues and cell types to improving candidate gene and candidate variant identification, to gaining a better understanding of the pathways involved in disease etiology. I will specifically highlight the role of current AI/ML-driven approaches in post-GWAS analysis, providing a roadmap for utilizing computational methods for functional follow up of human disease-associated regions. These frameworks offer a scalable strategy for advancing precision medicine through a deeper understanding of the functional genome.

Biography: Charles Breeze (National Cancer Institute, Bethesda MD) received his Ph.D. in computational epigenetics and genomics from University College London, where he was an EU Marie Curie predoctoral fellow. He has worked for other leading institutions including the University of Oxford, the European Bioinformatics Institute, and the Altius Institute for Biomedical Sciences. Dr. Breeze has developed several large-scale computational frameworks including eFORGE, F-MAGMA, FORGEdb, LDscore and FORGE2 for the analysis of data from epigenome-wide association studies (EWAS) and genome-wide association studies (GWAS). In addition, Dr. Breeze has led multiple large-scale association studies to characterize the genetic and epigenetic architecture of susceptibility across a diverse range of diseases. Dr. Breeze has published over 60 journal papers, including in Nature Genetics and Nature Methods, and has received a number of awards including the Cafritz Award, the NCI Outstanding Scientific Paper Award, and the NCI IT challenge Award.