Methods development in detecting rare non-coding variants in enhancer regions in Alzheimer's disease

The project aims at developing a new method to detect rare non-coding variants in enhancers in Alzheimer's disease. Briefly, we limit variants discovery within potential enhancer hotspots from a combination of chromatin marks and eRNAs. We will study the effects of newly discovered non-coding variants using mutations from the whole-genome sequencing data, and examine their associations with phenotypes. The requested datasets will be used to establish and validate our method.

Alzheimer's disease is potentially caused by rare mutations in human genome. Detecting these rare variants proves to be difficult. Our major goal is to develop a new approach to identify these rare mutations, and find out their contribution to the risk of Alzheimer's disease.