Completing the human genome assembly
Telomere-to-telomere assemblies of human genomes
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA SANTA CRUZ · NIH-10931523
This study is working to create a complete map of human DNA to help us understand genetic differences that might be related to health issues, using special samples from a type of pregnancy called complete hydatidiform moles.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA SANTA CRUZ (nih funded) |
| Locations | 1 site (SANTA CRUZ, UNITED STATES) |
| Trial ID | NIH-10931523 on ClinicalTrials.gov |
What this research studies
This research aims to fully assemble and phase diploid chromosomes of the human genome, focusing on regions that are often unresolved due to their complex repetitive sequences. By developing new experimental methods, the project seeks to create complete telomere-to-telomere genome assemblies using unique samples called complete hydatidiform moles. The researchers will validate these assemblies to enhance their accuracy and explore genetic variations that may be linked to diseases. This work could lead to a better understanding of genetic diversity and its implications for health.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with genetic disorders or those interested in genetic diversity and its health implications.
Not a fit: Patients with well-characterized genetic conditions that do not involve complex genomic regions may not benefit directly from this research.
Why it matters
Potential benefit: If successful, this research could provide a more complete understanding of the human genome, potentially leading to improved disease diagnosis and treatment options.
How similar studies have performed: Other research has shown success in genome assembly techniques, but this approach aims to address previously unresolved regions, making it a novel endeavor.
Where this research is happening
SANTA CRUZ, UNITED STATES
- 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 below.