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Principal Investigator  
Principal Investigator's Name: Bertrand Adanve
Institution: Genetic Intelligence, Inc
Department: Research and Development
Proposed Analysis: Genetic Intelligence (GI) will analyze de-identified whole genome sequences (WGS) from Alzheimer’s disease (AD) and healthy patients using it’s AI-based platform to discover novel causal genes and variants for AD. Objective 1: Obtain de-identified WGS data (e.g., ADSP and ADNI) from NIAGADS and preprocess them for input into GI’s computational pipeline. Objective 2: Run the AD WGS through our in-house genetic background dissector tool, Cato, that uses several machine learning systems to stratify genomes before analysis to avoid spurious results arising from differences in case and control backgrounds. Objective 3: Rediscover known AD genes. The WGS will be clustered using both supervised and unsupervised approaches to account for disease heterogeneity. Chromosomes containing known AD genes (e.g., APOE, PSEN1 and PSEN2) will be input into our causal gene discovery platform, Bergspitze, to confirm if it can rediscover the known AD genes. The output from Bergspitze will be input into Franklin, GI’s interpretation module that provides a coherent etiology model for the disease with awareness of alternative etiologies advanced in the literature. Objective 4: Discovery of new AD genes. Run the full genomes from all cluster groups and ancestry cohorts in Bergspitze and Franklin to identify and prioritize new AD genes and variants. There are no plans to collaborate with other institutions.
Additional Investigators