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An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing

Margulies, Elliott H. (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
Vinson, Jade P. (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
Miller, Webb (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
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Jaffe, David B. (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
Lindblad-Toh, Kerstin (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
Chang, Jean L. (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
Green, Eric D. (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
Lander, Eric S. (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
Mullikin, James C. (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
Clamp, Michele (author)
Genome Technology Branch and NISC, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02141; and Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA 16802
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 (creator_code:org_t)
2005-03-18
2005
English.
In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 102:13, s. 4795-4800
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • With the recent completion of a high-quality sequence of the human genome, the challenge is now to understand the functional elements that it encodes. Comparative genomic analysis offers a powerful approach for finding such elements by identifying sequences that have been highly conserved during evolution. Here, we propose an initial strategy for detecting such regions by generating low-redundancy sequence from a collection of 16 eutherian mammals, beyond the 7 for which genome sequence data are already available. We show that such sequence can be accurately aligned to the human genome and used to identify most of the highly conserved regions. Although not a long-term substitute for generating high-quality genomic sequences from many mammalian species, this strategy represents a practical initial approach for rapidly annotating the most evolutionarily conserved sequences in the human genome, providing a key resource for the systematic study of human genome function.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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