# Project 2- Using a Biobank and Electronic Health Records to Characterize Genome Variation Affecting Health Disparities

> **NIH NIH U54** · VANDERBILT UNIVERSITY MEDICAL CENTER · 2020 · $135,494

## Abstract

While it is widely recognized that a host of common diseases and disease outcomes differ among populations 
defined by continental ancestry, it is usually unclear what the relative contributions of different patterns of 
environmental exposures, different access to and utilization of health care resources, and the different 
frequencies of alleles affecting risk of disease or outcomes are to the observed differences in risk of disease 
and outcomes. We focus in this project largely on building tools to identify and characterize, with respect to 
function and biological mechanism, the genetic risk factors contributing to health disparities in disease and 
outcomes, and then in the application of these tools to disease and outcome phenotypes relevant to our project 
and to the larger health disparities research community. Our applications will be made in the context of 
Vanderbilt University's research database of electronic health records (EHR), the Synthetic Derivative, with 
data on more than 2.5 million subjects going back almost 30 years, and linked biobank (BioVU), with DNA 
samples on more than 200,000 subjects. This will allow us to leverage large and ongoing investments made by 
Vanderbilt to build and enhance these resources. For example, we will be able to access genome data on 
more than 100,000 BioVU subjects, including more than 17,000 African Americans for our project to identify 
and characterize the genetic component to health disparities in African Americans. All software tools we 
develop for this research will be made publicly available, and we will in addition construct publicly accessible 
databases – the Vanderbilt Health Disparities Portal – serving the results of our studies. Thus, in addition to the 
discovery research we will conduct, we seek to provide resources that will enhance research infrastructure in 
health disparities for the entire scientific community. Our Specific Aims are to: 1) Systematically identify 
phenotypes with marked differences in lifetime risks between Americans of recent European and Americans of 
recent African ancestry. These studies will be conducted using the SD with EHR on more than 2.5 million 
patients within VUMC. 2) Systematically identify and characterize the genetic factors contributing to 
phenotypes with significantly different lifetime risks among individuals from populations with different historical 
geographic ancestry. These studies will be conducted using BioVU, in which we have DNA samples on more 
than 200,000 subjects, with genome interrogation (ranging from whole genome sequencing to genome-wide 
association studies using genotyping arrays) available on more than 100,000 subjects, including more than 
17,000 African Americans, by the end of 2016. 3) Comprehensively characterize the relative contribution of 
genetic risk factors to health disparities in lifetime risk and outcomes for a) asthma and pre-term birth (year 1), 
phenotypes with existing support for genetic contribu...

## Key facts

- **NIH application ID:** 9921226
- **Project number:** 5U54MD010722-05
- **Recipient organization:** VANDERBILT UNIVERSITY MEDICAL CENTER
- **Principal Investigator:** Nancy J Cox
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $135,494
- **Award type:** 5
- **Project period:** — → 2023-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9921226

## Citation

> US National Institutes of Health, RePORTER application 9921226, Project 2- Using a Biobank and Electronic Health Records to Characterize Genome Variation Affecting Health Disparities (5U54MD010722-05). Retrieved via AI Analytics 2026-06-10 from https://api.ai-analytics.org/grant/nih/9921226. Licensed CC0.

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