Creating a comprehensive human genome reference

Maintaining, improving, and providing the human reference

NIH-funded research Washington University · NIH-10689155

This study is working on creating a new, more complete map of human DNA that includes a wider variety of genetic backgrounds, which will help doctors and researchers better understand how our genes affect health and disease.

Quick facts

Grant typeNIH-funded research
Study typeNIH-funded research
Funding institutionWashington University NIH-funded
Lab location1 site (Saint Louis, United States)
Project IDNIH-10689155 on NIH RePORTER

What this research studies

This research aims to develop a pan-human genome reference that enhances the existing human genome reference by incorporating a broader representation of genetic diversity. The project will utilize advanced methods to assemble and validate genomic data, ensuring high-quality reference materials are available for researchers and clinicians. By mapping genomic variants, the team will create a resource that allows for better understanding of human genetics and its implications for health and disease. This initiative is designed to be scalable and widely accessible, benefiting a diverse range of stakeholders in the field of genetics.

Who could benefit from this research

Good fit: Ideal candidates for benefiting from this research include individuals undergoing genetic testing or those with genetic disorders seeking more precise diagnoses.

Not a fit: Patients with conditions unrelated to genetic variation or those not requiring genetic analysis may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could significantly improve the accuracy of genetic testing and personalized medicine for patients.

How similar studies have performed: Previous research has shown success in enhancing genome references, indicating that this approach has the potential for meaningful advancements.

Where this research is happening

Saint Louis, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions DiseaseDisorder
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.