Impact of genetic variants on gene regulation and 3D genome organization in human diseases

Project: Research project

Project Details


Genome-wide association studies (GWAS) have discovered thousands of genetic variations that are associated with hundreds of complex human diseases. However, the underlying mechanisms of how these variants contribute to disease pathogenesis remain obscure. One of the main hurdles is that the majority of disease-associated variants identified are located in the non-coding regions, whose annotations and functions are traditionally poorly understood. Thanks to recent efforts by the ENCODE and Epigenome Roadmap projects, we have identified millions of potential non-coding regulatory elements in the human genome, mainly based on high-throughput assays such as DNase-Seq or ChIP-Seq data. More importantly, it has been shown that 77% of the disease-associated SNPs are located within a potential regulatory region. However, there have been very few studies in which functional experiments were properly performed to elucidate how SNPs can disrupt the function of a distal regulatory element and influence the phenotypes.
Effective start/end date8/1/197/31/22


  • National Institute of General Medical Sciences (5R35GM124820-04)


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