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Principal Investigator  
Principal Investigator's Name: Anna Malkova
Institution: University of Iowa
Department: Biology
Proposed Analysis: The objective of our research is to characterize genomic rearrangements associated with various human disease including Alzheimer’s. The overarching hypothesis guiding our research is that repair of double-strand breaks (DSBs) in DNA using ‘risky’ inaccurate pathways can lead to genomic destabilization. Our focus is on two DSB repair pathways: break-induced replication (BIR) and microhomology-mediated BIR (MMBIR). The overall goal of our proposed research is to define the molecular mechanisms of MMBIR, and to identify factors that inhibit or promote cells entering into MMBIR. We aim to achieve this using our MMBSearch tool to detect MMBIR events that are often missed by other methods in human WGS analyses. Using MMBSearch we will analyze data from NIAGADS, specifically data on neurological disease associated whole genome sequencing (WGS) and whole exome sequencing (WES) to detect MMBIR events associated with neurodegenerative disorders. The results of this analyses will be used to determine the frequency of MMBIR in various types of human cells and their association with neurodegenerative disorders. In addition, we will identify chromosomal locations where MMBIR events are especially abundant and specific features in humans that predispose them to MMBIR. We will identify genetic variations predisposing cells to MMBIR, which may uncover that specific SNPs, structural variations, certain gene mutations, etc. are associated with MMBIR events.
Additional Investigators