Systematic Characterization of Genomic Variation on Genomic Function and Phenotype (UM1 Clinical Trial Not Allowed) | RFA HG 20 043

Opportunity Information: Apply for RFA HG 20 043

The grant opportunity titled "Systematic Characterization of Genomic Variation on Genomic Function and Phenotype (UM1 Clinical Trial Not Allowed)" (Funding Opportunity Number RFA HG 20 043) is a National Institutes of Health (NIH) cooperative agreement designed to fund large, coordinated research centers that can experimentally connect specific genetic variants to measurable biological effects. The core goal is to move beyond simply listing variants found in sequencing studies and instead produce direct evidence showing how both non-coding variants (those outside protein-coding regions, often affecting gene regulation) and protein-coding variants (those that alter amino acid sequences and protein function) change genomic function and downstream phenotypes.

The work emphasized in this announcement centers on systematic perturbation experiments, meaning applicants are expected to use deliberate, scalable experimental approaches to introduce or test variants and then measure consequences across multiple levels of biology. Those levels explicitly include molecular phenotypes (for example, changes in gene expression, chromatin accessibility, transcription factor binding, splicing, protein abundance, or other functional genomic readouts), cellular phenotypes (such as growth, viability, differentiation state, signaling behaviors, morphology, or cell-type specific functional outputs), and organismal phenotypes where appropriate (broader physiological or developmental outcomes, typically in model systems rather than human clinical trials given the "Clinical Trial Not Allowed" restriction). The intended product is a structured catalog of variant effects: a resource that links particular genomic changes to specific, reproducible functional outcomes.

A major feature of the program is that awardees are not funded as isolated projects. Funded centers become part of the Impact of Genomic Variation on Function Consortium, a collaborative network intended to accelerate understanding of how genetic variation influences human health and disease. As consortium members, the mapping centers are expected to coordinate closely with one another and with other consortium components. That coordination is described as covering both data collection strategies and analyses, which typically implies aligning experimental designs, agreeing on shared standards for assays and metadata, harmonizing quality control procedures, and making results comparable across sites. In addition to generating data, centers are also expected to contribute to a group predictive modeling effort, using the experimentally generated variant-effect datasets to help build and improve models that can predict functional impact from sequence or other genomic context. In practice, this means the program values not only producing high-quality experimental measurements, but also producing data in a form that can train and validate computational methods aimed at interpreting variants at scale.

Administratively, the mechanism is a cooperative agreement (UM1), which generally indicates substantial NIH involvement in the conduct and coordination of the program compared with a standard research project grant. The activity category is Health, and the CFDA number listed is 93.172. While the source listing does not specify an award ceiling or expected number of awards, it does show an original closing date of 2020-11-04 and a creation date of 2020-08-03, indicating the opportunity was posted in that timeframe.

Eligibility is broad and includes many types of U.S. governmental entities and research-performing organizations, such as state, county, and city or township governments; special district governments; independent school districts; public and state-controlled institutions of higher education; private institutions of higher education; Native American tribal governments that are federally recognized; tribal organizations that are not federally recognized; public housing authorities/Indian housing authorities; nonprofits with or without 501(c)(3) status (other than institutions of higher education); for-profit organizations other than small businesses; small businesses; and other entities. The announcement also explicitly calls out additional eligible applicant categories, including Alaska Native and Native Hawaiian Serving Institutions; Asian American Native American Pacific Islander Serving Institutions (AANAPISIs); eligible federal agencies; faith-based or community-based organizations; Hispanic-serving institutions; Historically Black Colleges and Universities (HBCUs); Indian/Native American tribal governments other than federally recognized; non-U.S. entities (foreign organizations); regional organizations; Tribally Controlled Colleges and Universities (TCCUs); and U.S. territories or possessions. Overall, the eligibility language signals an intent to support a wide range of institutions, including those serving underrepresented communities and organizations outside the continental United States.

In practical terms, the opportunity is aimed at teams that can run high-throughput or otherwise systematic functional genomics experiments, produce rigorously curated datasets linking variants to functional outcomes, and actively participate in a consortium environment where standardization, data sharing, and joint analysis are central expectations. The "Clinical Trial Not Allowed" label clarifies that projects should not be structured as clinical trials involving prospective assignment of human participants to interventions; instead, the focus is on experimental systems and functional assays to illuminate mechanisms by which genomic variation influences biological function and, ultimately, disease relevance.

• The National Institutes of Health in the health sector is offering a public funding opportunity titled "Systematic Characterization of Genomic Variation on Genomic Function and Phenotype (UM1 Clinical Trial Not Allowed)" and is now available to receive applicants.
• Interested and eligible applicants and submit their applications by referencing the CFDA number(s): 93.172.
• This funding opportunity was created on 2020-08-03.
• Applicants must submit their applications by 2020-11-04. (Agency may still review applications by suitable applicants for the remaining/unused allocated funding in 2026.)
• Eligible applicants include: State governments, County governments, City or township governments, Special district governments, Independent school districts, Public and State controlled institutions of higher education, Native American tribal governments (Federally recognized), Public housing authorities/Indian housing authorities, Native American tribal organizations (other than Federally recognized tribal governments), Nonprofits having a 501 (c) (3) status with the IRS, other than institutions of higher education, Nonprofits that do not have a 501 (c) (3) status with the IRS, other than institutions of higher education, Private institutions of higher education, For-profit organizations other than small businesses, Small businesses, Others.

Apply for RFA HG 20 043

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