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Detecting Differential Transcription Factor Binding Based on DNA Accessibility

Common genetic diseases—systemic diseases that are caused by thousands of mutations—affect millions of people around the world. Many of these mutations fall within regulatory regions. While the mutations associated with these diseases are widely known from Genome Wide Association Studies (GWAS), the link between these mutations and their role in disease pathogenicity has largely gone undiscovered. This study harnesses single cell ATAC-seq data to differentiate sites where transcription factors (regulatory proteins) are bound or unbound, serving as a first step to understanding these diseases. In distinguishing between bound and unbound transcription factors, the study paves the way for using single cell ATAC-seq to understand the biochemical mechanism underlying common diseases by identifying the cell types and changes in transcription factor binding caused by genetic diseases.