Informatics Tools for the Pangenome (U01 Clinical Trial Not Allowed)

The National Institutes of Health (NIH) has issued a funding opportunity, Informatics Tools for the Pangenome (RFA-HG-25-007), under the U01 activity code, to support the development of computational tools that facilitate the scientific use and adoption of the human pangenome reference produced by the Human Genome Reference Program (HGRP). This program aims to improve genomic research by advancing the representation and usability of human genome diversity, targeting broad applications such as clinical, population, and functional genomics. The National Human Genome Research Institute (NHGRI), National Cancer Institute (NCI), and National Institute on Aging (NIA) are participating in this initiative. The primary objective is to create tools that enable the genomics community to leverage the pangenome for novel and improved analyses. This includes developing user-friendly tools for diverse use cases—such as structural variation analysis, multi-omic data integration, visualization of functional features, and clinical variant annotation. Proposals may involve creating entirely new tools or adapting existing tools for pangenome-specific applications. Tools must accommodate the graph-based and evolving nature of the pangenome, scale with increased complexity, and emphasize usability across varying levels of genomics expertise. Applications must align with NIH standards for data sharing and tool dissemination, following best practices for software development, including interoperability, reproducibility, and robust documentation. Tools will be shared through the Human Pangenome Coordinating Center (HPCC) to ensure community accessibility and integration into existing research workflows. Proposals must describe plans for validation, benchmarking, and adoption strategies to facilitate uptake within the genomics community. NCI has expressed a particular interest in tools for somatic cancer analyses, such as identifying complex structural variants or addressing disparities in cancer genomics. The NIA is interested in tools for studying the genetics of aging, longevity, and Alzheimer's disease-related dementias, with an emphasis on diverse populations and population-specific genomic features. Applicants are expected to participate in the HGRP consortium, contributing to collaborative governance through a Steering Committee, regular progress updates, and annual meetings. Awards will be made under a cooperative agreement, meaning NIH staff will provide substantial programmatic oversight to ensure alignment with the overall program goals. Up to $3 million in total funding is available in fiscal year 2026 to support approximately six awards, with individual budgets capped at $400,000 per year in direct costs. Projects can last for a maximum of three years. Eligible applicants include higher education institutions, nonprofits, for-profits, and government entities, including foreign organizations and components. The deadline for applications is March 3, 2025, with letters of intent due by February 3, 2025. Applications must adhere to NIH submission policies, including requirements for registration in SAM.gov, Grants.gov, and eRA Commons. NIH staff will host an informational webinar on January 8, 2025, to address questions about the program. For further guidance, applicants are encouraged to contact NHGRI, NCI, or NIA program officers. Successful applicants must comply with data management and sharing policies, emphasizing open and timely dissemination of tools and findings to the research community.