A resource to help interpret genetic variants for better diagnosis
Official title: A phenomics-first resource for interpretation of variants
Funded at Univ of North Carolina Chapel Hill · NIH-11138176 · Data updated 2026-11-12
This study is working on a helpful tool that makes it easier for doctors to understand genetic information and diagnose patients with hard-to-identify conditions, so they can provide better care.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | June 1, 2024 |
| Project end | May 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $1,903,676 |
| NIH project number | 7RM1HG010860-05 |
| Project ID | NIH-11138176 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with rare or complex genetic conditions that have been challenging to diagnose.
✕Less likely to help
Patients with well-defined genetic conditions that are already easily diagnosed may not benefit from this research.
What this research studies
This research focuses on creating a comprehensive resource that improves the interpretation of genetic variants by harmonizing complex data related to diseases, phenotypes, and genetic information. By utilizing a structured approach to capture and analyze phenotypic information, the project aims to enhance the diagnostic process for patients with difficult-to-diagnose conditions. The methodology involves using the Human Phenotype Ontology (HPO) to standardize deep phenotyping, which has previously shown to increase diagnostic yields in rare diseases. This resource will ultimately assist clinicians in making more informed decisions regarding patient care.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and personalized treatment plans for patients with genetic disorders.
How similar studies have gone: Previous research has demonstrated success in using deep phenotyping to improve diagnostic outcomes, indicating that this approach has potential for further advancements.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Haendel, Melissa a — Univ of North Carolina Chapel Hill
- Study coordinator: Haendel, Melissa a
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.