Developing tools to analyze genetic variations using pangenomic data
Official title: Tools for comprehensive variant characterization using the pangenome
Funded at University of California Santa Cruz · NIH-10976565 · Data updated 2026-11-12
This study is working on new computer tools to better understand the genetic differences between people, which could help create personalized treatments for patients by giving a clearer picture of their unique genetic makeup.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Santa Cruz NIH-funded |
| Lab location | 1 site (Santa Cruz, United States) |
| Project start | September 23, 2024 |
| Project end | August 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $1,696,968 |
| NIH project number | 1U01HG013748-01 |
| Project ID | NIH-10976565 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known genetic disorders or those seeking detailed genetic analysis for personalized medicine.
✕Less likely to help
Patients without genetic disorders or those not interested in genetic testing may not receive direct benefits from this research.
What this research studies
This research focuses on creating advanced computational methods and software tools to analyze pangenomic data, which includes genetic variations across different individuals. The project aims to improve the accuracy of identifying and characterizing complex genetic variants, particularly structural variants, through innovative mapping and genotyping techniques. Patients may benefit from personalized pangenomes that enhance the understanding of their genetic makeup, leading to better-targeted treatments. The research will utilize machine learning and long-read sequencing technologies to provide a more comprehensive view of genetic variations.
Why it matters
Potential benefit: If successful, this research could lead to more accurate genetic testing and personalized treatment options for patients with complex genetic disorders.
How similar studies have gone: Other research has shown promise in using pangenomic approaches for genetic analysis, indicating that this methodology could lead to significant advancements in the field.
Where this research is happening
-
University of California Santa Cruz
Santa Cruz, United States Active
Researchers
- Principal investigator: Paten, Benedict — University of California Santa Cruz
- Study coordinator: Paten, Benedict
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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.