Finding large DNA changes linked to cancer and inherited conditions
Detecting structural variants in a large population of samples through high-throughput sequencing data
['FUNDING_OTHER'] · VANDERBILT UNIVERSITY · NIH-11145883
This project makes new computer tools to find large DNA changes in people's genomes to help reveal genetic causes of cancer and inherited conditions.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | VANDERBILT UNIVERSITY (nih funded) |
| Locations | 1 site (Nashville, UNITED STATES) |
| Trial ID | NIH-11145883 on ClinicalTrials.gov |
What this research studies
Researchers are developing new computer tools that use advanced DNA sequencing methods (long-read, linked-read, and single-cell RNA sequencing) to spot structural variants—large changes in DNA that are often missed. They will create high-quality two-copy (diploid) genome assemblies for many people and combine data from large groups of patients and controls. The team will use haplotype-based mapping across the whole genome to link specific DNA changes to disease risk. The focus is on cancers and inherited disorders and aims to make it easier to find and interpret the genetic changes behind those conditions.
Who could benefit from this research
Good fit: People with cancer or suspected inherited genetic disorders, or anyone willing to provide DNA or genomic data, would be the most relevant candidates for contribution.
Not a fit: People whose health problems are not related to genetic structural variants or who cannot provide genetic samples are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this could make genetic causes of cancer and inherited diseases easier to find, improving diagnosis and guiding future personalized treatments.
How similar studies have performed: Long-read and linked-read sequencing have already improved detection of structural variants, but combining these approaches with large-population and single-cell data is relatively new and less tested.
Where this research is happening
Nashville, UNITED STATES
- VANDERBILT UNIVERSITY — Nashville, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ZHOU, XIN MAIZIE — VANDERBILT UNIVERSITY
- Study coordinator: ZHOU, XIN MAIZIE
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.
Conditions: Cancers