Understanding complex changes in human DNA
Sequence resolution of complex human genome structural variation
['FUNDING_R01'] · UNIVERSITY OF WASHINGTON · NIH-11115807
This project aims to map out complex changes in human DNA, called structural variations, to better understand their role in human health.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF WASHINGTON (nih funded) |
| Locations | 1 site (SEATTLE, UNITED STATES) |
| Trial ID | NIH-11115807 on ClinicalTrials.gov |
What this research studies
Our bodies are made up of cells, and inside each cell is DNA, our genetic instruction book. Sometimes, large sections of this DNA can be rearranged, flipped, or duplicated, which are called structural variations. These changes can sometimes lead to health conditions, but they are very hard to find and understand. This project uses advanced DNA sequencing technologies to fully map these complex changes in hundreds of human genomes. By doing so, we hope to uncover how these variations are formed and how they might contribute to various diseases.
Who could benefit from this research
Good fit: This foundational genetic work does not directly involve patient participation but uses existing human genome data from a diverse group of individuals, including children and adults.
Not a fit: Patients seeking immediate medical treatment or direct clinical intervention will not find benefit from this basic science project.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of the genetic causes of many human diseases, potentially improving diagnosis and treatment strategies in the future.
How similar studies have performed: While previous efforts have identified many structural variations, this project focuses on the most challenging types, like inversions, using advanced sequencing to achieve a more complete understanding.
Where this research is happening
SEATTLE, UNITED STATES
- UNIVERSITY OF WASHINGTON — SEATTLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: EICHLER, EVAN — UNIVERSITY OF WASHINGTON
- Study coordinator: EICHLER, EVAN
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.