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:
Limited Competition: High Quality Reference Genomes (UM1 Clinical Trial Not Allowed)
The purpose of this RFA is to fund a center that will produce 200 new high-quality human genome assemblies for incorporation into the human pangenome reference. As one of three components of the HGRP, this center will also include an integrated team of ethical, legal and social implications (ELSI) researchers who will be embedded in the overall HGRP This is a limited competition RFA. Only recipient organizations under RFA-HG-19-002 are eligible to apply..
The High Quality Reference Genomes component will establish criteria and metrics for prioritizing and adding 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. For the renewal of the HGRP, an additional criterion for sample prioritization will be the added utility for basic and clinical studies that use genomics. This component will also recruit new participants and collect new (or may use existing) samples and datasets that will fulfill these criteria and metrics and generate reference quality sequence data and assemblies for 200 diploid genomes.
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. Applicants will be asked to include a summary of strategies to advance the scientific and technical merit of the proposed project through expanded inclusivity. This is particularly important given the program focus on a resource representative of worldwide populations.
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.This component will create and release new pangenome reference versions and will facilitate adoption by the research community. Key activities will include implementing state of the art and user friendly reference representations; developing an informatics tool infrastructure; coordinating with other groups to make the resource useful to a broad community of users; accelerating wide use of the pangenome resource, and providing logistical coordination for the HGRP.
Informatics Tools for the Pangenome. This multi-award component of the HGRP will develop informatics tools for community use of the human pangenome reference produced by the HGRP. 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.
For more information about the HGRP and the human pangenome reference resource, please see https://www.genome.gov/Funded-Programs-Projects/Human-Genome-Reference-Program and 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 HQRG NOFO is expected to be published in the early Summer of 2023 with an expected application due date in the late Summer of 2023.
Applications are not being solicited at this time.
Please direct all inquiries to:
Adam Felsenfeld Ph.D.
National Human Genome Research Institute