HPRC Funding
The National Human Genome Research Institute (NHGRI) is funding multiple components to improve and update the Human Genome Reference Program. These funding resources include the following: A Human Genome Reference Center (HGRC; RFA-HG-19-004), High Quality Human Reference Genomes (HGRQ; RFA-HG-19-002), Genome Reference Representations (GRR; RFA-HG-19-003), Informatics tools for use of the human genome reference (see Concept documents), Technology development for complete sequencing of genomes (NOT-HG-19-011).
The Human Pangenome Reference Center
The Human Pangenome Reference Center (HPRC) at Washington University will serve as the coordinating center for the projects. Dr. Ting Wang will lead the HPRC, and other PIs include Dr. Ira Hall, Yale University, Dr. Benedict Paten, University of California, Santa Cruz, and Dr. Fergal Martin, EMBL-EBI. The HPRC will provide the infrastructure necessary to coordinate this large-scale effort. This work will facilitate communications within the HGRP, among international genome reference collaborators, and with the scientific and medical communities.
The High-Quality Reference Genome
The High-Quality Reference Genome (HQRG) effort is led by Dr. Karen Miga at the University of California, Santa Cruz, and other PIs include Dr. Ting Wang, Washington University, Dr. Evan Eichler, University of Washington, Dr. Erich Jarvis, The Rockefeller University, Dr. Ira Hall, Washington University, and Dr. Eimear Kenny, Icahn School of Medicine. The HQRG aims to create a genome reference representative of human genetic diversity. Standard metrics for high-quality genome assemblies will be established, and haplotype-resolved human genomes will be produced. The program will work collaboratively to select and prioritize diverse samples consented for full data release. The HGRQ will also resolve reported errors in the genome assemblies.
Genome Reference Representations (GRRs)
The Genome Reference Representations (GRR) projects support research and development for a next-generation genome reference representation that can capture all human genome variation and support research on the full diversity of populations.
Dr. Heng Li, Dana Farber Cancer Institute, is the contact PI for the GRR grant entitled The Construction and Utility of Reference Pangenome Graphs (Grant Number: 1U01HG010961). The other PI on the grant is Benedict Paten, from the University of California, Santa Cruz.
Dr. Mark Chaisson, University of Southern California, is the contact PI for the GRR grant entitled Representing Structural Haplotypes and Complex Genetic Variation in Pangenome Graphs (Grant Number: 1U01HG010973). Other PIs include Evan Eicher, University of Washington, and Tobias Marschall, Heinrich Heine University Düsseldorf.
Dr. Hanlee Ji from Stanford University is the contact PI for the grant entitled K-mer Indexing for Pangenome Reference Annotation (Grant Number: 1U01HG010963), and the other PI on the grant is Tsachy Weissman from Stanford University.