Faster, cheaper ways to read both copies of your genome
Robust and cost-effective computational methods for haplotype-resolved genome assemblies
This project is building computer tools to create complete maps of each person’s two genomic copies so scientists can find complex DNA differences more reliably.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11196230 on NIH RePORTER |
What this research studies
The team will create new computer programs that combine very accurate long DNA reads with extra long-range phasing data to build both parental copies of a person’s genome. They will build on an existing tool called hifiasm and design hybrid algorithms to better resolve highly repetitive regions like centromeres. Methods will be tested on large public datasets used by groups such as the Human Pangenome Reference Consortium and Genome in a Bottle to measure improvements. The team will also focus on reducing computing time and cost so these assemblies become more accessible to researchers and clinical labs.
Who could benefit from this research
Good fit: Ideal participants would be people willing to provide DNA or blood samples for high-quality long-read sequencing, such as individuals with suspected structural genetic variants or undiagnosed rare conditions.
Not a fit: People without an interest in genome sequencing or those who cannot provide samples are unlikely to see direct benefits from this computational work in the near term.
Why it matters
Potential benefit: If successful, these tools could help doctors and scientists detect large or complex genetic changes more accurately, improving diagnosis and genetic understanding for patients with structural or rare genomic disorders.
How similar studies have performed: Related software (hifiasm) has already helped large projects produce high-quality genome assemblies, though fully resolving some repetitive regions like centromeres remains a frontier.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Cheng, Haoyu — Yale University
- Study coordinator: Cheng, Haoyu
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.