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Principal Investigator: Joseph F. Peterson
Organization: VANDERBILT UNIVERSITY MEDICAL CENTER
Fiscal Year: 2020
Award: $900,400
Funding agency: National Human Genome Research Institute
As the COVID-19 pandemic emerged in early 2020 and rapidly spread across the US, an urgent
need developed to improve our current understanding of what factors increase infection risk,
likelihood of severe illness, or poor outcomes. Early reports suggest genetics, personal health
history, socioeconomic factors, and one's environment increases risk of infection or differences
in outcomes, but little is known with high confidence. As there are currently no vaccinations or
other preventative treatment, understanding clinical and genetic risk factors would immediately
improve our ability to manage the pandemic across populations and deliver precision care at the
bedside. The Electronic Medical Records and Genomics (eMERGE) Network has the expertise
and resources to investigate the factors leading to increased COVID disease susceptibility by
rapidly compiling data from electronic health records (EHRs) and mining records for gene and
disease associations. To perform this task well, the features of COVID disease course and
characteristics of patients with COVID-19 and those who serve as controls must be precisely
defined (“ePhenotyped”) across different record system. Our experience with phenotyping and
imputing genomic and EHR data across large populations will enable us to quickly merge a
large number of COVID-19 patients for future genome and phenome wide association studies,
polygenic risk assessments, and candidate gene studies. Our specific aims include first to
create and deploy ePhenotypes for immediate research use establishing a COVID case
definition, severity scale, and comorbidities with relation to outcomes. Secondly, we propose to
collect COVID EHR and genomic data centrally for future translational research. These
resources will be beneficial to the scientific community, necessary to predict comprehensive risk
of disease across the lifespan, and have the potential to impact downstream patient care.
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