Analyzing genetic data to identify disease-related variants
Core C- Bioinformatics Core
This study is looking at how to use computer tools to understand DNA information better, so we can find out which genetic changes might be linked to conditions like meningomyelocele, helping patients get more accurate diagnoses.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11017621 on NIH RePORTER |
What this research studies
This research focuses on the application of bioinformatics to analyze large datasets generated from DNA sequencing. By utilizing advanced statistical models and computational techniques, the project aims to identify genetic variants that may contribute to conditions like meningomyelocele. The team will work with data from various sources, including whole genome and RNA sequencing, to prioritize potentially harmful genetic variants. Patients' genetic information will be processed to enhance understanding of their conditions and improve diagnostic accuracy.
Who could benefit from this research
Good fit: Ideal candidates for this research include patients undergoing genetic testing for conditions related to neural tube defects.
Not a fit: Patients with conditions unrelated to genetic variants or those not undergoing genetic testing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better identification of genetic risks associated with certain diseases, improving patient diagnosis and treatment options.
How similar studies have performed: Previous research in bioinformatics and genetic variant analysis has shown promising results in identifying disease-related genes, indicating that this approach is both tested and effective.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Bafna, Vineet — University of California, San Diego
- Study coordinator: Bafna, Vineet
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.