Understanding how the surrounding DNA affects mutation rates in humans
Mechanisms and consequences of sequence context-dependency of human mutation rate
This study is looking at what affects how often changes happen in our DNA, especially in certain areas that can be linked to diseases like cancer, to help us better understand genetic disorders and human evolution.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10866423 on NIH RePORTER |
What this research studies
This research investigates the factors that influence mutation rates in the human genome, particularly focusing on how the surrounding DNA sequence affects these rates. By analyzing large-scale genomic data, the study aims to uncover the molecular mechanisms behind variations in mutation rates, especially at specific sites known as CpG sites. The researchers will develop computational methods to better understand these processes and their implications for diseases like cancer. This work could lead to improved insights into genetic disorders and enhance our understanding of human evolution.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a family history of genetic disorders or cancers that may be influenced by mutation rates.
Not a fit: Patients with non-genetic conditions or those whose health issues are not related to genetic mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better identification of genetic factors contributing to diseases, potentially improving diagnosis and treatment options for patients.
How similar studies have performed: Previous research has shown success in understanding mutation rates and their implications in genetics, suggesting that this approach has a solid foundation.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Gao, Ziyue — University of Pennsylvania
- Study coordinator: Gao, Ziyue
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.