Developing computer methods to analyze genetic variations using advanced sequencing technologies
Computational methods for variant calling and haplotyping using long-read sequencing technologies
This study is working on new computer tools to help doctors find genetic changes more accurately, especially in areas that are tricky to read, so that patients with conditions like cancer or inherited diseases can get better information for their diagnosis and treatment.
Quick facts
| Grant type | R01 grant |
|---|---|
| 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-10657420 on NIH RePORTER |
What this research studies
This research focuses on creating new computational tools to improve the accuracy of genetic variant detection and haplotyping using long-read sequencing technologies. By utilizing advanced methods, the project aims to enhance our understanding of genetic variations that can lead to diseases, particularly cancers and hereditary conditions. The approach involves analyzing complex regions of the genome that are often difficult to interpret with traditional short-read sequencing. Patients may benefit from more precise genetic information that can inform their diagnosis and treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with hereditary cancer syndromes or those with complex genetic conditions that have not been fully understood due to limitations in current sequencing technologies.
Not a fit: Patients with conditions that do not involve genetic mutations or those who do not have a hereditary component may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate identification of genetic mutations associated with various cancers and hereditary diseases, improving patient care.
How similar studies have performed: Other research has shown promise in using long-read sequencing technologies for genetic analysis, suggesting that this approach could lead to significant advancements in understanding genetic diseases.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Bansal, Vikas — University of California, San Diego
- Study coordinator: Bansal, Vikas
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.