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BIOLOGY: HUMAN: GENETICS : BIOLOGY: RESEARCH: Researchers Produce First Sequence Map of Large-Scale Structural Variation in Human Genome

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  • David P. Dillard
    Date: Wed, 30 Apr 2008 13:31:13 -0400 From: NIH OLIB (NIH/OD) To: NIHPRESS@LIST.NIH.GOV Subject: Researchers Produce First Sequence Map of
    Message 1 of 1 , May 1, 2008
      Date: Wed, 30 Apr 2008 13:31:13 -0400
      From: "NIH OLIB (NIH/OD)" <olib@...>
      To: NIHPRESS@...
      Subject: Researchers Produce First Sequence Map of Large-Scale
      Structural Variation in Human Genome

      U.S. Department of Health and Human Services

      National Human Genome Research Institute (NHGRI)

      Embargoed for Release: Wednesday, April 30, 2008, 1:00 p.m. EDT


      Geoff Spencer





      Map Will Boost Efforts to Explore Role of Structural Variants in Disease

      A nationwide team of researchers, funded in part by the National Human
      Genome Research Institute (NHGRI), part of the National Institutes of
      Health (NIH), has produced the first sequence-based map of large-scale
      structural variation across the human genome. The work, published today in
      the journal "Nature", provides a starting point to examine how such DNA
      variation contributes to human health and disease.

      Other recently created maps, such as the HapMap, have catalogued the
      patterns of small-scale variations in the genome that involve single DNA
      letters, or bases. However, the scientific community has been eagerly
      awaiting the creation of additional types of maps in light of findings
      that larger scale differences account for a great deal of the common
      genetic variation among individuals and between populations, and may
      account for a significant fraction of disease. While previous work has
      identified structural variation in the human genome, a sequence-based map
      provides much finer resolution and location information.

      Large-scale structural variations are differences in the genome among
      people that range from a few thousand to a few million DNA bases. Some are
      gains or losses of stretches of genome sequence. Others appear as
      re-arrangements of stretches of sequence. Already, some structural
      variations have been linked to individual differences in susceptibility to
      the human immunodeficiency virus (HIV), risk of coronary heart disease, as
      well as to schizophrenia and autism. Researchers hope the new map will
      open the door to uncovering the functions of structural variants in even
      more conditions.

      "It is important that we understand how changes in the human genome, both
      small and large, contribute to individual differences in susceptibility to
      diseases," said Francis Collins, M.D., Ph.D. "This map is a valuable
      starting point for researchers studying the normal patterns of structural
      variation and how differences in those patterns affect human health."

      Researchers constructed the structural variation map by partially
      sequencing the genomes of eight people: four people of African descent,
      two of Asian descent and two of European descent. The samples were
      collected as part of the International HapMap Project. No medical or
      personal identifying information was obtained from the donors, but the
      samples were labeled by population group.

      Sequence data were collected from each end of roughly 1 million random
      small pieces of DNA from each individual's genome. These end sequences
      were compared to the reference sequence of the human genome completed in
      2003. Where precise matches did not occur, the scientists inferred that
      there was a structural difference between the volunteer's sample and the
      reference sequence of the human genome.

      In addition to revealing new variations, the map also provides a more
      detailed look at the locations of nearly 1,700 structural variations --
      half of which had not been previously described. About half of the
      structural variations were found in at least two of the eight genomes
      analyzed. The work also uncovered 525 new regions of large-scale
      structural variation in the human genome. The large-scale differences came
      in many forms, including deletions and out-of-place insertions of long
      stretches of DNA. Almost half of the new variations consist of differences
      in how many copies individuals have of a certain gene, which researchers
      refer to as a copy number variant.

      "The structural variation map will give us a much better picture of
      genetic variation between each individual, and help us better understand
      these areas of the genome that are prone to large-scale changes over
      time," said Evan Eichler, Ph.D., of the University of Washington, who led
      the research.

      Sequence data from the structural variation map are publicly available
      through the NIH's National Center for Biotechnology Information Trace
      Archive, <www.ncbi.nlm.nih.gov/Traces>. Mapping data are also freely
      available from the University of Washington


      In addition to Eichler and his colleagues at the University of Washington,
      the project included researchers at Agencourt Bioscience Corp., Beverly,
      Mass.; Agilent Technologies, Santa Clara, Calif.; Washington University
      School of Medicine, St. Louis; Division of Intramural Research, NHGRI,
      Bethesda, Md.; the University of Wisconsin, Madison; the Broad Institute
      of MIT and Harvard, Cambridge, Mass.; and Illumina, Inc., San Diego.

      NHGRI is one of 27 institutes and centers at the NIH, an agency of the
      Department of Health and Human Services. The NHGRI Division of Extramural
      Research supports grants for research and for training and career
      development at sites nationwide. Additional information about NHGRI can be
      found at its Web site,


      The National Institutes of Health (NIH) - The Nation's Medical Research
      Agency - is comprised of 27 Institutes and Centers and is a component of
      the U. S. Department of Health and Human Services. It is the primary
      Federal agency for conducting and supporting basic, clinical, and
      translational medical research, and investigates the causes, treatments,
      and cures for both common and rare diseases. For more information about
      NIH and its programs, visit



      This NIH News Release is available online at:

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