Traumatic brain injury (TBI) is a leading cause of death and disability worldwide and a major global health concern. In the United States (US), individuals of Black or African American racial identity experience disproportionately higher rates of TBI and suffer from worse post-injury outcomes. Contemporary research agendas have largely overlooked or excluded Black populations, resulting in the continued marginalization of Black patient populations in TBI studies, thereby limiting the generalizability of ongoing research to patients in the US and around the world.
View Article and Find Full Text PDFImportance: Persons with substance use disorders (SUD) often suffer from additional comorbidities, including psychiatric conditions and physical health problems. Researchers have explored this overlap in electronic health records (EHR) using phenome wide association studies (PheWAS) to characterize how different indicators are related to all conditions in an individual's EHR. However, analyses have been largely cross-sectional in nature.
View Article and Find Full Text PDFGenotype imputation is crucial for GWAS, but reference panels and existing benchmarking studies prioritize European individuals. Consequently, it is unclear which publicly available reference panel should be used for Pakistani individuals, and whether ancestry composition or sample size of the panel matters more for imputation accuracy. Our study compared different reference panels to impute genotype data in 1814 Pakistani individuals, finding the best performance balancing accuracy and coverage with meta-imputation with TOPMed and the expanded 1000 Genomes (ex1KG) reference.
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