Understanding how genetic changes affect DNA modifications
Identification of somatic/ mosaic SV and transposon activity and their crosstalk to DNA epigenetic Modifications
This study is looking at how certain changes in our DNA can affect our health, especially in relation to diseases, and it aims to help patients by uncovering important information about the genetic factors behind their conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11134509 on NIH RePORTER |
What this research studies
This research investigates the role of somatic mutations and transposon activity in the human genome, focusing on how these genetic changes interact with DNA epigenetic modifications. By developing advanced computational methods and utilizing long-read sequencing, the team aims to create a comprehensive catalog of somatic structural variations. This work will enhance our understanding of how these variations influence gene expression and contribute to various diseases. Patients may benefit from insights gained about the genetic underpinnings of their conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with unexplained genetic conditions or those diagnosed with cancers that may involve somatic mutations.
Not a fit: Patients with purely hereditary genetic disorders without somatic mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding of genetic factors in diseases, potentially guiding more effective treatments.
How similar studies have performed: Previous research has shown promise in understanding somatic mutations in cancer, suggesting that this approach could yield valuable insights.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Sedlazeck, Fritz J — Baylor College of Medicine
- Study coordinator: Sedlazeck, Fritz J
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.