Improving the interpretation of genetic variant pathogenicity
New quantitative approaches to interpret variant pathogenicity
This study is working to improve how doctors understand genetic test results, especially for unclear cases, so that patients can get the right medical care based on more reliable information about their genes.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Florida NIH-funded |
| Lab location | 1 site (Gainesville, United States) |
| Project ID | NIH-11001121 on NIH RePORTER |
What this research studies
This research focuses on enhancing the accuracy of interpreting genetic variants identified through next-generation sequencing, which is crucial for genomic medicine. The project aims to develop standardized quantitative methods that can better classify genetic variants, particularly those that are currently deemed uncertain. By utilizing advanced deep learning techniques and functional data, the researchers will recalibrate pathogenicity scores to make them more reliable across different genes. This approach seeks to ensure that patients receive appropriate medical treatment based on more accurate genetic information.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals undergoing genetic testing for conditions like autism spectrum disorder or childhood cardiomyopathy.
Not a fit: Patients with well-established genetic variants that are already classified and understood may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and tailored treatments for patients with genetic conditions.
How similar studies have performed: Other research has shown promise in improving genetic variant interpretation, but this approach aims to refine and standardize the process further.
Where this research is happening
Gainesville, United States
- University of Florida — Gainesville, United States (Active)
Researchers
- Principal investigator: Fan, Xiao — University of Florida
- Study coordinator: Fan, Xiao
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.