Abstract
PURPOSE: Individuals who self-report as Black or African American are historically underrepresented in genome-wide studies of disease risk, a disparity particularly evident in pediatric disease research. To address this gap, Cincinnati Children's Hospital Medical Center (CCHMC) established a biorepository and developed a comprehensive DNA sequencing resource including 15,684 individuals who self-identified as African American or Black and received care at CCHMC. METHODS: Participants were enrolled through the CCHMC Discover Together Biobank and sequenced. Admixture analyses confirmed the genetic ancestry of the cohort, which was then linked to electronic medical records. RESULTS: High-quality genome-wide genotypes from common variants accompanied by medical record-sourced data are available through the Genomic Information Commons. This dataset performs well in genetic studies. Specifically, we replicated known associations in sickle cell disease (HBB, HGNC:4827, p = 4.05 × 10(-1) ), anxiety (PLAAT3, HGNC:17825, p = 6.93 × 10(-) ), and asthma (PCDH15, HGNC:14674, p = 5.6 × 10(-1) ), while also identifying novel loci associated with anxiety, asthma, and asthma severity. CONCLUSION: We present the acquisition and quality of genetic and disease-associated data and present an analytical framework for using this resource. In partnership with a community advisory council, we have co-developed a valuable framework for data use and future research.