The Small Business Informatics Tools for the Pangenome funding opportunity, announced by the National Human Genome Research Institute (NHGRI), supports the development of informatics tools to enable scientific use and uptake of the human pangenome reference. This initiative is specifically aimed at small business concerns (SBCs) through Phase I Small Business Innovation Research (SBIR) grants. The pangenome, produced by NHGRI's Human Genome Reference Program (HGRP), integrates diverse, high-quality genomes into a graph-based reference, representing global genetic diversity and advancing genomic research.

The purpose of this Notice of Funding Opportunity (NOFO) is to encourage SBCs to develop tools with commercial potential that address compelling use cases relevant to genomics, including clinical, population, and functional genomics. Proposed tools should support widespread adoption of the pangenome, allowing researchers and clinicians with varying levels of informatics expertise to access its benefits. Projects may include innovative new tools or modifications of existing tools but must avoid duplicating existing infrastructure or workflows. Examples of relevant tools include genome alignment, data visualization, structural variant identification, multi-omics integration, disease annotation, and secure data handling.

Eligible applicants are United States-based SBCs that meet specific ownership, size, and operational criteria, as defined by the Small Business Administration (SBA). Non-U.S. entities and components are ineligible. Applicants must meet NIH’s performance benchmarks related to Phase I to Phase II transitions and commercialization rates if they have received previous SBIR/STTR awards. A letter of intent is encouraged by February 3, 2025, with full applications due March 3, 2025. Awards are expected to start in December 2025.

The total project budget for Phase I awards may not exceed $400,000, and the project period is limited to one year. Applicants must demonstrate the feasibility and technical merit of their proposed tools, as well as their potential for commercialization and adoption by the genomics community. Scalability, data integration, robustness to pangenome updates, and innovative use of the pangenome resource will be key factors in the evaluation process. Applications must clearly address utility, competitive advantages over existing tools, and plans for validation, benchmarking, and testing. Proposals must comply with NIH's Data Management and Sharing Policy while adhering to SBIR-specific intellectual property protections.

Applications will undergo NIH peer review to evaluate their significance, innovation, approach, investigator expertise, and research environment. Special attention will be given to the proposed tool’s ability to improve genomic analyses, catalyze adoption of the pangenome, and accommodate its expanding scale and complexity. NHGRI encourages proposals that adhere to robust software development practices, incorporate best practices for interoperability, and enhance reproducibility for broad research use.

Successful applicants will gain eligibility for associate membership in the Human Pangenome Reference Consortium (HPRC) and are encouraged to participate in its annual meetings. NHGRI anticipates this funding opportunity will foster commercial bioinformatics tools that make the pangenome more accessible, furthering its role in enabling cutting-edge genomics research and clinical applications.