Better genetic mapping of coronary artery disease using whole-genome and ancestry-aware methods
A paradigm for comprehensive genetic association studies of complex disease using pangenomic methods and local ancestry inference
This project builds new whole-genome and ancestry-aware methods to find genetic changes linked to coronary artery disease, with attention to people from diverse backgrounds.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11300963 on NIH RePORTER |
What this research studies
From a patient's perspective, the team will create a new analysis pipeline that uses a population of fully assembled reference genomes (a pangenome) instead of a single reference so genetic differences can be found more accurately. The pipeline will look for all kinds of genetic changes — single letter changes, small insertions or deletions, larger structural changes, and repeat-length differences — and will use local ancestry and haplotype-aware methods to link those variants to heart disease and related risk factors. Researchers will apply these methods to about 55,000 deeply sequenced human genomes from large sequencing centers to better map genetic contributors to coronary artery disease. The work emphasizes reducing biases that miss variants in people from non-European ancestries, so findings should be more relevant across diverse communities.
Who could benefit from this research
Good fit: Ideal candidates are adults with coronary artery disease or related cardiometabolic risk factors, especially people from underrepresented ancestral groups or those who have provided whole-genome sequence data to large research programs.
Not a fit: People seeking immediate changes in medical treatment or those whose heart disease is driven entirely by non-genetic causes may not see direct clinical benefit from this work in the short term.
Why it matters
Potential benefit: If successful, this could improve how genetic risk for coronary artery disease is detected and help make genetic findings more accurate and useful for people of diverse ancestries.
How similar studies have performed: Past genetic studies have identified many risk variants for coronary artery disease, but applying pangenome references and local-ancestry-aware methods is newer and expected to reveal variants that earlier approaches missed.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Hall, Ira M — Yale University
- Study coordinator: Hall, Ira M
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.