NIH funds human genome reference update

September 24, 2019 -- The National Institutes of Health announced on September 24 that it will be granting $29.5 million to support researchers to generate and maintain the most comprehensive reference of the human genome. The funds, distributed over the course of five years, will be managed by the National Human Genome Research Institute (NHGRI).

The research will provide a much-needed update to the currently available reference sequence of the human genome. It is important to keep the reference updated, as nearly all biomedical genomic research studies rely on the reference. Two centers will be established as part of a new Human Genome Reference Program (HGRP) as hubs of technological innovations in sequencing and computational tools. The centers will work with international collaborators to develop a multi-genome reference sequence that is as universal and complete as possible. This 'pan-genome' sequence will represent 350 genomes from the human population. The centers will work to determine disease-causing variants and specify genomic locations with increased accuracy.

Award recipients include Washington University in St. Louis (WashU), University of California, 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 Genome Reference Center. The first center will provide a next-generation reference sequence of the human genome as a resource for the scientific community and stimulate interactions within the genomics community.

The second center, the Human Reference Genome Sequencing Center, will aim to sequence up to 350 additional genomes using state-of-the-art technologies. This center will be housed at UCSC with US and international collaborators including Washington University in St Louis, University of Washington School of Medicine, The Rockefeller University, Mt. Sinai, Harvard University, Broad Institute, Coriell Institute for Medical Research, McGill University, University of Cambridge and the Max Planck Institute.

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