Telomere-to-telomere human genomes for health and disease
Official title: Telomere-to-telomere assemblies of human genomes
Funded at University of California Santa Cruz · NIH-11297468 · Data updated 2026-11-12
Aims to make complete human genome maps more affordable and easier to produce so researchers can catch genetic clues that affect health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Santa Cruz NIH-funded |
| Lab location | 1 site (Santa Cruz, United States) |
| Project start | September 14, 2020 |
| Project end | August 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $773,185 |
| NIH project number | 2R01HG011274-06 |
| Project ID | NIH-11297468 on NIH RePORTER |
Who could benefit from this research
✓Could help
Researchers and clinicians who study human genetics and genomic diseases may contribute to and benefit from the improved genome resources (no direct patient enrollment required).
✕Less likely to help
Individuals not involved in genomics research or without interest in genome references may not directly benefit.
What this research studies
This project at UC Santa Cruz develops scalable, automated methods to generate fully phased, gap-free human genome assemblies with fewer sequencing steps. By simplifying the workflow and reducing costs, it will enable large groups to create high-quality genome data. Researchers will also improve automatic annotation of newly resolved regions to better identify genes and regulatory elements linked to health and disease.
Why it matters
Potential benefit: If successful, patients could benefit from more comprehensive genetic references that improve diagnosis and understanding of genetic diseases.
How similar studies have gone: Previous efforts to improve genome assemblies have advanced the field, though complete telomere-to-telomere assemblies at scale are still developing.
Where this research is happening
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University of California Santa Cruz
Santa Cruz, United States Active
Researchers
- Principal investigator: Miga, Karen Hayden — University of California Santa Cruz
- Study coordinator: Miga, Karen Hayden
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.