Non-coding, disease-associated variants are likely critical drivers of disease states. We are generating epigenomic maps in human primary T cells to identify cis-elements. By intersecting these elements with disease-associated variants for various autoimmune diseases and disorders, we can determine cis-regulatory variants that may alter gene expression. We are functionally validating these variants using massively parallel reporter assays (MPRA), ATAC-seq in donor cohorts, and CRISPR editing in primary human T cells.
Current projects in the lab related to this topic include:
- Functional Validation of Autoimmune Disease enhancer variants. We are using MPRA, ATAC-seq and CRISPR to determine allelic difference in enhancer activity using primary human T cells.
- Investigation of 3D Genome Architecture to Map Enhancer-target Genes. We are using capture Hi-C to determine the target genes of enhancers of interests from primary human T cells.