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Award supports integration of genomic data, electronic health records

Sep. 10, 2020, 9:19 AM


by Leigh MacMillan

Eric Gamazon, PhD, assistant professor of Medicine, has been awarded a $1.5 million grant from the National Human Genome Research Institute, part of the National Institutes of Health (NIH), to develop novel computational tools that integrate functional genomic data and electronic health records.

Eric Gamazon, PhD

Gamazon and his team will also focus on developing methods to further genetic studies in ethnically diverse populations. The work will provide a framework for investigating the biological mechanisms underlying complex traits, including disease risk, and has important implications for precision medicine.

“Functional genomic datasets continue to be rapidly generated and can facilitate studies of molecular mechanisms underlying complex diseases. In parallel, large-scale biobanks, such as BioVU and All of Us, are highly efficient at generating genetic discoveries,” Gamazon said. “There is a need for an integrative approach that spans these domains to advance both.”

BioVU is Vanderbilt’s DNA biobank and de-identified electronic health records. The All of Us Research Program is an NIH effort to advance personalized health care by enrolling one million or more people who reflect the diversity of the U.S. to contribute health data over many years.

Gamazon and members of the international Genotype-Tissue Expression (GTEx) Consortium previously developed computational approaches to link disease-associated genetic variants to gene expression in a broad collection of human tissues. With the new grant, he will use machine learning and functional genomics to improve characterization of the genetic architecture of gene expression and build mathematical and prediction models for application to electronic health records.

A key part of Gamazon’s ongoing work is to develop analytic approaches and software tools that further genetic analyses in multi-ethnic populations.

“These methods will be important for helping us to identify causal variants and mechanisms at disease-associated genetic loci,” Gamazon said. “Such studies will also ensure that we are not creating new disparities and that benefits of genomic research will extend to biomedically underserved populations.”

In 2019, Gamazon was one of only six investigators to receive a Genomic Innovator Award in the first year the award was offered by the NIH. He is a Life Member of Clare Hall, a graduate college devoted to advanced studies, research and scholarship at the University of Cambridge, which facilitates key collaborations, he said.

The grant number is 1R01HG011138.

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