Creating a framework to improve genomic medicine interpretation
Development and validation of a computable knowledge framework for genomic medicine
This study is working on a new tool to help doctors better understand genetic information, making it easier and faster to figure out what certain gene changes mean for your health, so you can get the right diagnosis and treatment more quickly.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project ID | NIH-10894632 on NIH RePORTER |
What this research studies
This research focuses on developing a computable knowledge framework that enhances the interpretation of genomic information for clinical care. By addressing the challenges faced by analysts in navigating multiple knowledgebases, the project aims to streamline the process of collecting evidence for clinical significance of gene variants. The methodology involves integrating diverse data sources to reduce the time and effort required for accurate genomic evaluations, ultimately improving diagnosis and treatment decisions for patients. This framework seeks to alleviate the bottleneck in clinical variant interpretation, making genomic medicine more efficient and effective.
Who could benefit from this research
Good fit: Ideal candidates for this research are patients undergoing genomic testing for cancer or other genetic conditions who may benefit from improved interpretation of their genomic data.
Not a fit: Patients who do not undergo genomic testing or those with conditions not related to genomic medicine may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly improve the accuracy and speed of genomic evaluations, leading to better patient outcomes in cancer diagnosis and treatment.
How similar studies have performed: Other research has shown success in developing integrative applications for genomic data interpretation, indicating that this approach has potential for meaningful advancements.
Where this research is happening
Columbus, United States
- Research Inst Nationwide Children's Hosp — Columbus, United States (Active)
Researchers
- Principal investigator: Wagner, Alex Handler — Research Inst Nationwide Children's Hosp
- Study coordinator: Wagner, Alex Handler
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 below.