The National Human Genome Research Institute (NHGRI) is seeking applications for the Small Business Technology Transfer (STTR) Phase I grant program titled "Small Business Informatics Tools for the Pangenome." This opportunity supports the development of informatics tools with commercial potential to enable the use of the human pangenome reference, a resource being developed through the NHGRI Human Genome Reference Program (HGRP). Eligible small business concerns (SBCs) are encouraged to submit innovative proposals that demonstrate feasibility and technical merit for tools that facilitate the adoption and use of the pangenome by the genomics community.

The program focuses on developing tools that address compelling use cases relevant to clinical, population, or functional genomics. These tools should allow researchers and clinicians to adopt the human pangenome reference for scientific and diagnostic purposes. Proposed tools may include new methods for integrating the pangenome into genomic workflows, data visualization for structural variation, population-level analyses, functional genomics studies, and clinical variant interpretation. Tools may also improve existing genomics software to incorporate the pangenome and adapt to its graph-based or other evolving representations. Projects should emphasize broad applicability, scalability, and innovation to catalyze the use of the pangenome resource.

Applications must address the tool's potential impact on enabling novel analyses, its innovative elements, and its ability to accommodate future updates to the pangenome. The tool's scalability for handling large datasets, integration with diverse genomic resources, and compliance with relevant standards are key considerations. Applications should also include plans for validation, benchmarking, and ensuring interoperability. Tools focused on single diseases or requiring extensive wet-lab data generation are considered non-responsive.

Eligible applicants include U.S.-based SBCs that meet the Small Business Administration's (SBA) size and ownership criteria. Foreign entities and components are not eligible, though foreign collaborations may be included as part of a U.S.-based application. Applicants must complete necessary registrations with SAM.gov, Grants.gov, eRA Commons, and the SBA Company Registry. The proposed budget for Phase I projects is limited to $400,000 in total costs, with a maximum duration of one year.

Applications will be evaluated based on their significance, innovation, approach, feasibility, and the expertise of the team. Reviewers will assess how well the tool addresses significant uses of the human pangenome reference, its technical rigor, and its potential to catalyze pangenome adoption. Commercial potential and utility to the broader genomics community will also be key evaluation criteria. Successful applicants may become associate members of the Human Pangenome Reference Consortium (HPRC) and are encouraged to participate in its activities.

The application due date is March 3, 2025, with scientific merit reviews occurring in July 2025 and funding decisions expected by October 2025. Projects are anticipated to start in December 2025. An informational webinar will be held in January 2025, where NHGRI staff will provide additional guidance and address questions from potential applicants. This funding opportunity represents a significant step toward fostering the development of tools that will enhance the utility, accessibility, and adoption of the human pangenome reference across genomics research and clinical applications.