Analytical and Statistical Tools for Sequence Analysis for Alzheimer’s Disease

The development of a new statistical methodology that makes more efficient use of whole genome sequencing data led to the discovery of a new disease region for Alzheimer’s disease (AD) that replicated in independent studies, and additional sex-specific risk loci that suggest a genetic basis for the sex difference in AD. Our new polygenic risk scores for AD provide a better individual risk prediction for the disease. 

Our initial simulation studies show that we will be able to identify loci in the APOE gene region that contribute to AD risk, independent of the well-known APOE4 locus, as well as in other AD genes. We also will be able to validate AD genes that have been reported in population-based studies in our family datasets from the Cure Alzheimer’s Fund Alzheimer’s Genome Project™ (AGP).