A faster way to find harmful DNA changes outside genes across body tissues
Development of an Efficient High Throughput Technique for the Identification of High-Impact Non-Coding Somatic Variants Across Multiple Tissue Types
['FUNDING_OTHER'] · BOSTON CHILDREN'S HOSPITAL · NIH-11348892
This project tests a faster, cheaper lab method that finds important DNA changes outside genes in tissue samples to help people at risk for cancer and age-related illnesses.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BOSTON CHILDREN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11348892 on ClinicalTrials.gov |
What this research studies
Researchers are developing a new lab method that uses ATAC-seq to focus on 'open' parts of DNA where harmful somatic mutations often occur. The plan has two phases: first adapting ATAC-seq to detect low-frequency noncoding mutations, then benchmarking it against deep whole-genome sequencing and other approaches. They will analyze samples from multiple tissue types and build algorithms to pinpoint recurrent, high-impact sites while reducing cost and data needs. The goal is a sensitive, high-throughput way to detect rare somatic variants without the expense of very deep whole-genome sequencing.
Who could benefit from this research
Good fit: Ideal candidates would be people willing to provide tissue or blood samples—especially patients with cancer, precancerous conditions, strong family histories, or older adults at higher risk.
Not a fit: People seeking immediate treatment decisions or whose conditions are driven solely by inherited (germline) mutations may not see direct benefit from this tool development.
Why it matters
Potential benefit: If successful, this could make it easier and cheaper to spot risky somatic DNA changes that help predict or diagnose cancer and aging-related conditions.
How similar studies have performed: Deep whole-genome sequencing can find somatic mutations but is costly; using ATAC-seq for mutation detection is a newer, less-tested approach with promising rationale.
Where this research is happening
BOSTON, UNITED STATES
- BOSTON CHILDREN'S HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WALSH, CHRISTOPHER A. — BOSTON CHILDREN'S HOSPITAL
- Study coordinator: WALSH, CHRISTOPHER A.
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.