Notice of Intent to Publish a Funding Opportunity Announcement for Informatics Tools for the Pangenome (U01 Clinical Trial Not Allowed)

Key Dates

None

National Human Genome Research Institute (NHGRI)

The National Human Genome Research Institute intends to renew the NHGRI Human Genome Reference Program (HGRP) to continue to improve the human pangenome reference resource. During the renewal phase there will be a new emphasis on community outreach and adoption of the resource and ensuring that it is useful to the full range of investigators working with or relying on human genetic and genomic data.

As one component of the renewal of the HGRP, NHGRI intends to publish the following RFA:

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

In order to encourage utility and adoption of the HGRP pangenome reference resource, this RFA will fund a new component of the HGRP through an open competition for multiple awards. The RFA will seek applications for development of informatics tools for community use of the human pangenome reference produced by the HGRP. 

This NOFO will encourage applicants to identify the most compelling tools and applications that will enable those using genomic data to use the pangenome reference to its fullest advantage.

These tools will build on those developed by the Human Pangenome Coordination Center (see below), with the latter focusing on general computational infrastructure for pangenome use.

Emphasis will be on tools for common use cases that are relevant to different broad sectors of the genomics community, e.g., clinical, population, and functional genomics. Possible examples include but are not limited to:

• Annotating regulatory elements in the pangenome to inform functional genomics studies
• Selecting the best subset of linear genomes or paths along the pangenome graph for use in analyzing a given set of samples
• Creating a data visualization tool to aid in identifying structural variation in the pangenome
• Using the pangenome reference to improve fine mapping and polygenic risk scores
• Using the pangenome to annotate clinically relevant variants

All HGRP awardees will work together in a consortium to produce and improve a human pangenome reference resource that is highly useful to the genomics community and the broader research community that uses a human genome reference.  Other components of the HGRP consortium will include:

Human Pangenome Coordinating Center. The Human Pangenome Coordinating Center for the HGRP. will create, improve, release, and maintain new pangenome reference versions with an emphasis on activities that will facilitate adoption by the research community. It will develop state of the art and user friendly reference representations for the human pangenome; develop an informatics tool infrastructure and aggregate user-centered pangenome tools.  It will coordinate with other groups to make the resource useful to a broad community of users.

High Quality Reference Genomes. This component will produce 200 new high-quality human genome assemblies for incorporation into the human pangenome reference. This component will prioritize new assemblies to the pangenome in a way that considers scientific goals (such as improving genetic diversity in the pangenome), goals related to equity (including representation of different populations and individuals from different ancestries or nations), and goals that consider the quantity and quality of new assemblies needed. Samples will also be prioritized to add utility to the resource for basic and clinical studies. This component will include an integrated team of ethical, legal and social implications (ELSI) researchers who will be embedded in the overall HGRP in order to identify and address multiple issues relevant to developing a pangenome resource that is meaningfully representative of human populations.

For more information about the HGRP, please see https://www.genome.gov/sites/default/files/media/files/2023-02/HGRP-Renewal-Concept.pdf For a description of the human pangenome resource and existing data see: https://humanpangenome.org/

This Notice is being provided to allow potential applicants sufficient time to develop meaningful collaborations and responsive projects.

The NOFO for the Informatics Tools for the Pangenome is expected to be published in the early Summer of 2023 with an expected application due date in Fall of 2023. 

TBD

Public/State Controlled Institution of Higher Education
Private Institution of Higher Education
Nonprofit with 501(c)(3) IRS Status (Other than Institution of Higher Education)
Small Business
For-Profit Organization (Other than Small Business)
State Government
Indian/Native American Tribal Government (Federally Recognized)
County governments
Independent school districts
Public housing authorities/Indian housing authorities
Indian/Native American Tribally Designated Organization (Native American tribal organizations (other than Federally recognized tribal governments)
U.S. Territory or Possession
Indian/Native American Tribal Government (Other than Federally Recognized)
Non-domestic (non-U.S.) Entity (Foreign Organization)
Regional Organization
Eligible Agencies of the Federal Government

Applications are not being solicited at this time. 

Please direct all inquiries to:

Adam Felsenfeld, Ph.D.
National Human Genome Research Institute
Tel: 301-496-7531
Email: [email protected]