The National Human Genome Research Institute (NHGRI) is funding multiple components to improve and update the Human Genome Reference Program.
- The Human Pangenome Reference Center (HPRC) at Washington University will serve as the coordinating center for the projects. The HPRC will be led by Drs. Ting Wang and Ira Hall, with subcontracts to 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 (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. Eimeer Kenny, Itach Medical School, and Dr. Alissa Resch, 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
- Applications for a companion RFA (RFA-19-004, U41), Research and Development for Genome Reference Representations (GRR) are still under consideration at this time.