# Genomic Resource Grant for PhenX Toolkit - expansion and sustainability: Resource Informatics

> **NIH NIH U41** · RESEARCH TRIANGLE INSTITUTE · 2021 · $272,304

## Abstract

PROJECT SUMMARY/ABSTRACT
The PhenX Toolkit is a catalog of standard measures and associated bioinformatics tools intended to help
investigators improve the quality and consistency of data collection and to identify opportunities for
collaborative research. Evolving over time, the PhenX Toolkit has expanded beyond the initial focus on
genome-wide association studies of common, complex diseases to include rare genetic conditions,
Substance Abuse and Addiction, Mental Health, Sickle Cell Disease, and Tobacco Regulatory Research.
The PhenX Toolkit currently includes 476 measures, which encompass 629 protocols, and more than 22,500
variables. Over the next 5 years, we propose several significant and innovative updates to the PhenX Toolkit
to further support users and to meet the evolving needs of the research community. These include
expanding the existing Toolkit ontology and implementing a graph (i.e., semantic or ontological) database to
support improved navigation and the development of new bioinformatics tools to visualize the content of
measures and identify opportunities for cross-study collaboration. The PhenX multidisciplinary team of
researchers and developers, together with input from the scientific community, will increase the utility and
impact of the PhenX Toolkit through the following Specific Aims. Overall Specific Aim 4: Link PhenX
measures to established ontologies: The extended PhenX ontology (based on existing ontologies) will be
implemented on the cloud and will enable nimble navigation and the development of tools for users to link
and harmonize variables across studies. Overall Specific Aim 5: Provide new tools that investigators need:
Develop an enriched interface that can traverse the increasing complexity of the Toolkit, support access by
mobile devices, and leverage the PhenX ontology to develop novel tools for comparing measures and
variables. Develop Faceted Navigation: The expanded PhenX ontology and implementation of a graph
database will enable development of Toolkit faceted navigation to provide an interactive exploration of the
PhenX measures. Develop Concept Visualization Tool: We will leverage the PhenX ontology to develop a
Concept Visualization Tool for comparing the content of PhenX measures. The Concept Visualization Tool
will enable users to determine which measure is most appropriate for their study and will help the PhenX
Steering Committee and Working Groups identify gaps and redundancies. Develop Connect the Studies
Tool: We will leverage the mappings between PhenX variables and the database of Genotypes and
Phenotypes (dbGaP) and the extended PhenX ontology to develop the Connect the Studies Tool. For each
PhenX variable, the Connect the Studies Tool will present users with the number of study participants
associated with a specific level of data similarity. These technology updates and novel bioinformatics tools
will reduce barriers to translational research, increase the consistency and quality of data c...

## Key facts

- **NIH application ID:** 10161809
- **Project number:** 5U41HG007050-09
- **Recipient organization:** RESEARCH TRIANGLE INSTITUTE
- **Principal Investigator:** Carol Marie Hamilton
- **Activity code:** U41 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $272,304
- **Award type:** 5
- **Project period:** 2013-07-01 → 2022-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10161809

## Citation

> US National Institutes of Health, RePORTER application 10161809, Genomic Resource Grant for PhenX Toolkit - expansion and sustainability: Resource Informatics (5U41HG007050-09). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10161809. Licensed CC0.

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