New methods to detect genetic variations linked to diseases
Novel bioinformatics methods for integrative detection of structural variants from long-read sequencing
['FUNDING_FELLOWSHIP'] · DREXEL UNIVERSITY · NIH-10947071
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
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | DREXEL UNIVERSITY (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10947071 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with known genetic disorders or those at risk for genetic diseases due to family history.
Not a fit: Patients without any genetic disorders or those not interested in genetic testing may not benefit from this research.
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 performed: 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
PHILADELPHIA, UNITED STATES
- DREXEL UNIVERSITY — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PERDOMO, JONATHAN — DREXEL UNIVERSITY
- Study coordinator: PERDOMO, JONATHAN
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.