# Functional Genomics: A Phenome-wide Survey

> **NIH NIH R35** · VANDERBILT UNIVERSITY MEDICAL CENTER · 2021 · $462,895

## Abstract

Two major developments in the field of Genomics inform the aims of this proposal.
Recent large-scale efforts using DNA biobanks linked to electronic health records (EHR) have
demonstrated a cost-effective and rapid approach to human genetic discovery with the
enormous potential to uncover trait-associated loci hitherto inaccessible because of inadequate
power or difficult-to-procure phenotypes. Meanwhile, Functional Genomics is generating large
catalogs of functional elements in the genome using a broad spectrum of molecular assays in
diverse tissues, cell types, or conditions. This proposal will develop an integrative methodology
that advances our understanding of the physiological mechanisms through which genetic
variation influences disease risk or quantitative trait. Building on existing research
collaborations, this work will develop a set of analytic approaches and computational tools for
the analysis of the human medical phenome and present a novel framework for the study of
gene function, using large-scale biobanks linked to extensive EHR data (BioVU, UK Biobank,
and All of Us) and the enormous breadth of functional genomics data (from GTEx and other
consortia) that are being produced. We will develop a new Phenome-Wide Association Study
(PheWAS) methodology, an approach to discovery and replication with enhanced capabilities
for proposing relevant mechanisms.

## Key facts

- **NIH application ID:** 10200115
- **Project number:** 5R35HG010718-03
- **Recipient organization:** VANDERBILT UNIVERSITY MEDICAL CENTER
- **Principal Investigator:** Eric R Gamazon
- **Activity code:** R35 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $462,895
- **Award type:** 5
- **Project period:** 2019-09-01 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10200115

## Citation

> US National Institutes of Health, RePORTER application 10200115, Functional Genomics: A Phenome-wide Survey (5R35HG010718-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10200115. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*