We are part of “The Center for Admixture Science and Technology (CAST)” which is one of the latest additions to the renowned Centers of Excellence in Genomic Science (CEGS) funded by National Human Genome Research Institute (NHGRI). The goal of CAST is to improve the utility of genome science for all populations living in the United States by studying complex relationships between genetics, individual behavior, socioeconomic status, and environmental factors influencing health. We will use data from the large diverse cohorts of All of Us and the Million Veterans Program to develop and apply new methods that incorporate local ancestry and complex variants (TRs and HLA types) in multivariate models. We will develop ancestry-aware polygenic risk scores (PRS), which we will benchmark to determine accuracy across ancestries and admixed individuals. We will also conduct a focused analysis on genes associated with cardiovascular disease.
We also collaborate with Dr. Radha Ayyagari at the Shiley Eye Institute at UC San Diego to identify new genes involved in inherited retinal dystrophies (IRD). We have generated whole genome sequence (WGS) data for 454 individuals from 126 pedigrees segregating IRD; 227 subjects are affected by IRD and 227 are unaffected. Our analyses have identified new genes that can underlie IRD as well as new types of mutations that can be present in known IRD genes. The study is funded by the NEI and the Foundation Fighting Blindness.