New methods to detect genetic variations linked to diseases
Official title: Novel bioinformatics methods for integrative detection of structural variants from long-read sequencing
Funded at Drexel University · NIH-10947071 · Data updated 2026-11-12
This study is working on new ways to find changes in our DNA that can be linked to different health issues, using advanced computer techniques to make sure we get the most accurate results possible.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Drexel University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 15, 2023 |
| Project end | September 14, 2026 |
| Funding year | 2024 |
| Award (this year) | $48,974 |
| NIH project number | 5F31HG013259-02 |
| Project ID | NIH-10947071 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with known genetic disorders or those at risk for genetic diseases due to family history.
✕Less likely to help
Patients without any genetic disorders or those not interested in genetic testing may not benefit from this research.
What this research studies
This research focuses on developing advanced bioinformatics techniques to accurately identify structural variants (SVs) in the human genome, which are often associated with various diseases. By integrating data from multiple sequencing technologies, the project aims to enhance the precision of SV detection. The approach includes creating a machine-learning model that evaluates genomic context and coverage to improve the reliability of SV calls. This could lead to better understanding of genetic variations and their implications for health.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and personalized treatment options for patients with genetic disorders.
How similar studies have gone: Previous research has shown promising results in using integrated sequencing technologies for detecting genetic variations, indicating that this approach has potential for success.
Where this research is happening
-
Drexel University
Philadelphia, United States Active
Researchers
- Principal investigator: Perdomo, Jonathan — Drexel University
- Study coordinator: Perdomo, Jonathan
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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.