• NIH funds centers for advancing the reference sequence of the human genome

    • September 27, 2019
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    New grants totaling approximately $29.5 million will enable scientists to generate and maintain the most comprehensive reference sequence of the human genome. The awards, made over five years pending the availability of funds, are managed by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.

    The currently available reference sequence of the human genome is becoming obsolete. The funds are necessary for making advances in DNA sequencing technology and computational methods possible. As a result, NHGRI will fund two centers as a part of a new Human Genome Reference Program (HGRP).

    “It has grown more and more important to have a high-quality, highly usable human genome reference sequence that represents the diversity of human populations. The proposed improvements will serve the growing basic and clinical genomics research communities by helping them interpret both research and patient genome sequences,” said Adam Felsenfeld, Ph.D., NHGRI program director in the Division of 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 picture to help assemble jigsaw puzzles, researchers use the reference genome sequence to assemble genome sequences from individuals. By advancing the quality of the available reference sequence of the human genome, the HGRP will enable researchers to find disease-causing variants and specify their genomic locations with markedly increased accuracy. An improved reference sequence will also allow scientists to report results in a way that other scientists can use in their analyses of genome sequence data.

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