NIH funds centers to advance the human genome reference sequence



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Press release

Tuesday, September 24, 2019

New grants totaling approximately $ 29.5 million will enable scientists to generate and maintain the most comprehensive reference sequence in the human genome. The five-year awards, pending funding availability, are managed by the National Institute of Human Genome Research (NHGRI), part of the National Institutes of Health.

The reference sequence of the human genome currently available becomes obsolete. Funds are needed to advance DNA sequencing technology and calculation methods. As a result, NHGRI will fund two centers under a new Human Genome Reference Program (HGRP).

"It has become increasingly important to have a high quality, highly usable human genome reference sequence that represents the diversity of human populations. The proposed enhancements will serve the growing fundamental and clinical genomics research communities by helping them interpret the genome sequences of the research and the patient, "said Adam Felsenfeld, Ph.D., NHGRI Program Director at the Division. genome sciences.

Almost all biomedical research studies that use or analyze human genomic data rely on the established reference sequence of the human genome. In the same way that people use the puzzle image to help in the assembly of puzzles, the researchers use the genome sequence of reference to assemble the genome sequences of individuals. By improving the quality of the available human genome reference sequence, HGRP will enable researchers to find disease-causing variants and specify their genomic locations with much greater accuracy. An improved reference sequence will also allow scientists to communicate the results in a way that other scientists can use in their analyzes of genome sequence data.

Both centers will work with international collaborators and develop a multi-genome reference sequence as universal and complete as possible. Known as the "pan-genome", the more complete reference sequence will represent 350 genomes of the human population. Over time, the researchers hope that the pan-genome will reflect all human diversity, allowing analysis of any human DNA sequence.

Sequencing of the human genome has been a landmark achievement in the history of science. The Human Genome Project has provided an almost complete human genome sequence for public reference. This reference has been maintained and improved since the end of the human genome project by an international group, the Genome Reference Consortium. The consortium is now ready to take a bold step forward under the new program.

NHGRI has allocated $ 2.5 million per year for five years to Washington University, St. Louis (WashU), University of California, Santa Cruz (UCSC), and European Bioinformatics Institute (EBI). , which will coordinate with the National Biotechnology Information Center to form the WashU-UCSC-EBI reference center on the human genome. The center will provide a next generation reference sequence of the human genome as a resource for the scientific community and support interactions within the genomics community.

The second component – the Human Reference Genome Sequencing Center – aims to sequence up to 350 additional diverse human genomes using advanced technologies to incorporate higher quality sequences more widely. representative. The amount of assistance will be about $ 3.5 million a year over five years. This award is given to UCSC, with US and international collaborators, including the University of Washington at St. Louis, the University of Washington School of Medicine, Rockefeller University, Mt. Sinai, Harvard University, Broad Institute, Coriell Institute for Medical Research, McGill University, Cambridge University and Max Planck Institute.

National Institute for Human Genome Research (NHGRI) is one of the 27 institutes and centers of the NIH, an agency of the Ministry of Health and Social Services. The NHGRI Intramural Research Division develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information on NHGRI can be found at: www.genome.gov.

About the National Institutes of Health (NIH):
The NIH, the country's medical research agency, has 27 institutes and centers and is part of the US Department of Health and Human Services. NIH is the lead federal agency that leads and supports basic, clinical and translational medical research. She studies causes, treatments and cures for common and rare diseases. For more information on NIH and its programs, visit www.nih.gov.

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