NIH Funds New Centers to Expand, Diversify the Human Reference Genome


The Coriell Institute for Medical Research will support one of the two new centers tasked with generating new reference sequences of the human genome

New grants from the National Institutes of Health (NIH) totaling approximately $29.5 million will enable scientists across the nation to generate and maintain a completely new and comprehensive reference sequence of the human genome that represents human genetic diversity.

The first human genome sequence, produced by the international Human Genome Project in 2000, was a landmark achievement that gave rise to the burgeoning field of genomic medicine. Improved and annotated over the years, that genome sequence has been an essential reference for making sense of new genomic data. But the current reference genome is still an incomplete sequence and woefully inadequate as a representation of human diversity and genetic variation.

The new project will address those shortcomings by creating a new “human pangenome reference” based on the complete genome sequences of 350 individuals. The project will be carried out by two new centers funded by the National Human Genome Research Institute (NHGRI), part of the NIH.

The two centers—a sequencing center and a reference center—are funded by separate grants. Together, these centers initiate a new Human Pangenome Reference Sequence Project, or "Human Pangenome Project."

NHGRI awarded about $3.5 million per year over a five year period to the University of California, Santa Cruz (UCSC), the University of Washington in Seattle, Washington University in St. Louis, and Rockefeller University in New York to form the Human Pangenome Sequencing Center. This center will aim to sequence up to 350 diverse human genomes using state-of-the-art technologies to incorporate high-quality sequences that are more broadly representative.

The Coriell Institute for Medical Research is also a collaborator on the Human Pangenome Sequencing Center and will coordinate with the sample collection and consent teams to receive blood samples, which will be used to establish cell lines. Coriell will assist with cell line creation, quality assessment, storage and distribution of the newly created samples, and will support the sequencing teams at partnering institutions by providing high quality biomaterials for the project.

“Coriell hosts the NHGRI Sample Repository for Human Genetic Research and is a natural partner for this important project.  We are excited to be involved with this project and to support the pangenome sequencing team to establish the next critical reference material for genetic research,” said Alissa Resch, PhD, Coriell’s chief scientific officer.

NHGRI also awarded $2.5 million per year for five years to three institutions—Washington University in St. Louis (WashU), UC Santa Cruz (UCSC), and the European Bioinformatics Institute (EBI), which will coordinate with the National Center for Biotechnology Information—to form the WashU-UCSC-EBI Human Pangenome Reference Center. This center will provide a next-generation reference sequence of the human genome as a resource for the scientific community.

The new centers will build on longstanding collaborations between the scientists at the participating institutions. The lead investigators for the Human Pangenome Sequencing Center include Evan Eichler at the University of Washington in Seattle, Ira Hall at Washington University in St. Louis, and Erich Jarvis at Rockefeller University. The UCSC participants in the genome sequencing, in addition to principal investigator David Haussler, include Karen Miga, Benedict Paten, Ed Green, and Mark Akeson.

The lead investigators for the Human Pangenome Reference Center include Ting Wang and Ira Hall at Washington University in St. Louis, Benedict Paten at UCSC, and Paul Flicek at the European Bioinformatics Institute. Other participants in the project include Richard Durbin at Cambridge University, Gene Myers at Max Plank Institute of Molecular Cell Biology and Genetics in Germany, Kirsten Howe at the Wellcome Sanger Institute in England, Adam Phillippy at NHGRI, Heng Li at the Broad Institute in Boston, Eimear Kenny at the Mount Sinai BioMe Biobank, Alissa Resch at the Coriell Institute for Medical Research, and Paolo Carnevali at the Chan-Zuckerberg Initiative in Palo Alto.

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