How population genetics affects large-scale DNA sequencing
Population genetics for large-scale sequencing studies
Researchers are using population genetics ideas to make large-scale DNA sequencing better at finding genetic differences linked to disease in people.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11189642 on NIH RePORTER |
What this research studies
This project looks at DNA patterns across many people to improve how genetic studies are designed and analyzed. It focuses on stretches of identical DNA (runs of homozygosity) that can hide recessive genetic risks and on methods for handling low-coverage sequencing and large datasets. The team combines population-genetic models with statistical tools to improve quality control, imputation, and discovery of disease-related variants. Much of the work uses existing human genetic data from large cohorts so results can be applied across many diseases.
Who could benefit from this research
Good fit: People who have donated DNA or had their genomes sequenced for large research cohorts or biobanks would be the most relevant participants for related projects.
Not a fit: Individuals without any genetic data in research cohorts or whose conditions are not driven by inherited genetic variation are unlikely to see direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could help researchers find disease-related genetic variants more accurately, which may speed diagnosis and future development of targeted treatments.
How similar studies have performed: Population-genetics methods have previously helped discover genetic risk factors, and applying runs-of-homozygosity and related models to very large, low-coverage sequencing datasets is a newer but promising extension of that work.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Rosenberg, Noah — Stanford University
- Study coordinator: Rosenberg, Noah
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.