Improving detection of complex genetic variations in human genomes
Detection and genotyping complex human genetic variation using single-molecule sequencing
['FUNDING_R01'] · UNIVERSITY OF SOUTHERN CALIFORNIA · NIH-11127529
This study is working on improving a special DNA reading technology to help doctors better understand genetic changes that can lead to diseases, so patients can get more accurate tests to find out if they are at risk for certain health issues.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF SOUTHERN CALIFORNIA (nih funded) |
| Locations | 1 site (Los Angeles, UNITED STATES) |
| Trial ID | NIH-11127529 on ClinicalTrials.gov |
What this research studies
This research focuses on enhancing the capabilities of single-molecule sequencing (SMS) technologies to better understand complex genetic variations that contribute to human diseases. By developing new algorithms and software, the project aims to detect variations in SMS reads, assemble missing duplicated sequences, and genotype complex variations in large datasets. Patients may benefit from improved diagnostic tools that can identify genetic predispositions to diseases more accurately. The research will also involve testing and refining these algorithms to ensure they are effective in real-world applications.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with complex genetic disorders or those seeking genetic testing for hereditary conditions.
Not a fit: Patients with well-defined single-gene disorders may not receive significant benefits from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate genetic testing and better understanding of genetic contributions to diseases.
How similar studies have performed: Previous research has shown promise in using advanced sequencing technologies for genetic analysis, indicating potential for success in this novel approach.
Where this research is happening
Los Angeles, UNITED STATES
- UNIVERSITY OF SOUTHERN CALIFORNIA — Los Angeles, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CHAISSON, MARK — UNIVERSITY OF SOUTHERN CALIFORNIA
- Study coordinator: CHAISSON, MARK
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.