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Principal Investigator  
Principal Investigator's Name: Andreas Pfenning
Institution: Carnegie Mellon University
Department: Computational Biology
Proposed Analysis: The goal of our study is to identify how genetic variation within non-coding regulatory regions influences the brain and disease predisposition. Most genetic variation that influences complex phenotypes is found in non-coding regulatory regions. Previously, our work as a part of the Roadmap Epigenomics consortium identified that Alzheimer’s-associated single nucleotide polymorphisms were enriched in immune-specific regulatory regions. To understand the mechanisms of how non-coding variation influences disease-predisposition, we are designing algorithms to intelligently group regulatory regions into functional modules by integrating epigenetic datasets. Once we have identified the regulatory regions that influence major biological pathways, we hope to link those annotations to endophenotypes, including imaging data and pathological variables. The ADNI data provides us with the means to explore these relationships.
Additional Investigators