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. The HPRC will be led by Dr. Ting Wang, with subcontracts to Dr. Ira Hall, Yale University, Dr. Benedict Paten, University of California, Santa Cruz, Dr. Heng Li, Harvard University, and support from EBI and the Sanger Center, Drs Paul Flicek and Kerstin Howe. The HPRC will provide the infrastructure necessary to coordinate this large scale effort. This work will involve facilitating communications within the HGRP, 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. David Haussler at the University of California, Santa Cruz, with subcontracts Dr. Evan Eichler, University of Washington, Dr. Erich Jarvis, The Rockefeller University, Dr. Ira Hall, Washington University, Heng Li, Harvard University, with additional support from Dr. Eimear Kenny, Icahn School of Medicine, and Dr. Matthew Mitchell, Coriell Institute. The goal of the HQRG is to create a genome reference that is representative of human genetic diversity. Standard metrics for high quality-genome assemblies will be established and over 300 high quality haplotype-resolved human genomes will be produced. The program will work collaboratively to select and prioritize diverse samples that are consented for full data release. The HGRQ will also resolve reported errors in the genome assemblies.
Genome Reference Representations (GRR)
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.
The contact PI for the GRR grant entitled, The Construction and Utility of Reference Pangenome Graphs (Grant Number: 1U01HG010961), is Heng Li, from Dana Farber Cancer Institute. He is joined on the grant by Co-Pi Benedict Paten, Co-Investigator from University of California, Santa Cruz.
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). Co-PIs include Evan Eicher, University of Washington, and Tobias Marschall, Heinrich Heine University Düsseldorf.
Hanlee Ji from Stanford University is the contact PI for the grant entitled, K-mer Indexing for Pangenome Reference Annoation (Grant Number: 1U01HG010963). Tsachy Weissman from Stanford University is a Co-PI on this award.