Identifying disease associations via integration between single cell methylomics and genome wide association studies
A project in our lab investigated the single cell disease risk association in brain single cell methylomics in human. We identified widespread brain specific disease signal in major depression disorder, schizophrenia, bipolar disorders as well as other brain related traits such as education and social well-being.
Our method allowed for single cell resolution disease risk investigation with methylation by integrating single cell methylomics with genome wide association studies (GWAS). Because of the single cell resolution, we were able to identify specific origins of different types of neurons that would have more enriched risk association with different traits as well as risk gradient within cell class and cell types, suggesting heterogeneity in disease risk within a cell type.