Improving long-read DNA sequencing tools to find cancer gene changes
Enhancement and further development of informatics methods for long-read cancer sequencing
This project builds better software and a cancer genome resource to help find DNA changes in tumors for people with breast and other cancers.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Dana-Farber Cancer Inst NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11173779 on NIH RePORTER |
What this research studies
If you contribute a tumor sample or clinical information, the project will use long-read DNA sequencing and new computer tools to find cancer-specific DNA changes that older tests can miss. The team will improve how long DNA reads are aligned and assembled, create tools to detect tumor mutations from those reads, and compare alignment-based and assembly-based approaches. They will also generate and share a set of long-read cancer genomes to benchmark and improve methods across labs. The work focuses on revealing complex changes like large rearrangements, aneuploidy, and BRCA-related alterations that can influence care.
Who could benefit from this research
Good fit: Ideal candidates would be people with breast cancer or other cancers who can provide tumor tissue, DNA, or clinical data for long-read sequencing and related research.
Not a fit: People without cancer or those who do not donate tumor samples or data are unlikely to directly benefit from this project's activities.
Why it matters
Potential benefit: This could lead to more accurate detection of tumor mutations and help guide more personalized cancer treatment choices.
How similar studies have performed: Long-read sequencing has shown promise in research for detecting complex mutations, but applying it broadly to cancer genomics and clinical use is still new and being refined.
Where this research is happening
Boston, United States
- Dana-Farber Cancer Inst — Boston, United States (Active)
Researchers
- Principal investigator: Li, Heng — Dana-Farber Cancer Inst
- Study coordinator: Li, Heng
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.