Accessing the Human Genome

Deanna Church1, Kim D. Pruitt1

1 National Center for Biotechnology Information, NIH, Bethesda, MaryLand
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 6.9
DOI:  10.1002/0471142905.hg0609s34
Online Posting Date:  November, 2002
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The majority of the sequence for the human genome is now available. Regardless of the researcher's area of interest, it is quite likely that they will want to use some aspect of this data. This unit helps researchers achieve that goal. It presents the gene models available at NCBI, the UCSC Genome Browser, and Ensembl. It reviews the features and options available from the three web sites to query, display, and download the data. In addition, the unit illustrates how to query each of the databases in order to identify information, such as the genomic location of a novel cDNA, a BAC clone that contains a particular gene, and homologous human genes to a particular protein sequence from a different organism.

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Table of Contents

  • The Nature of the Data
  • Assembling the Sequence
  • Annotation
  • Accessing the Data
  • How to Retrieve Information: Example Questions
  • Frequently Asked Questions (FAQs)
  • Acknowledgments
  • Literature Cited
  • Figures
  • Tables
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Literature Cited

Literature Cited
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   Cox, D.R., Burmeister, M., Price, E.R., Kim, S., and Myers, R.M. 1990. Radiation hybrid mapping: A somatic cell genetic method for constructing high resolution maps of mammalian chromosomes. Science 250:245‐250.
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   Pruitt, K.D., Katz, K.S., Sicotte, H., and Maglott, D.R. 2000. Introducing RefSeq and LocusLink: Curated human genome resources at the NCBI. Trends Genet. 16:44‐47.
   Roest‐Crollius, H., Jaillon, O., Bernot, A., Dasilva, C., Bouneau, L., Fischer, C., Fizames, C., Wincker, P., Brottier, P., Oetier, F., Saurin, W., and Weissenbach, J. 2000. Estimate of human gene number provided by genome‐wide analysis using Tetraodon nigroviridis DNA sequence. Nat. Genet. 25:235‐238.
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