How to Be Yourself

analysis

Guide to the draft human genome

Tyra G. Wolfsberg*, Johanna McEntyre† & Gregory D. Schuler†

* Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA † National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894, USA

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There are a number of ways to investigate the structure, function and evolution of the human genome. These include examining the morphology of normal and abnormal chromosomes, constructing maps of genomic landmarks, following the genetic transmission of phenotypes and DNA sequence variations, and characterizing thousands of individual genes. To this list we can now add the elucidation of the genomic DNA sequence, albeit at ‘working draft’ accuracy. The current challenge is to weave together these disparate types of data to produce the information infrastructure needed to support the next generation of biomedical research. Here we provide an overview of the different sources of information about the human genome and how modern information technology, in particular the internet, allows us to link them together.

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he ultimate goal of the Human Genome Project is to produce a single continuous sequence for each of the 24 human chromosomes and to delineate the positions of all genes. The working draft sequence described by the International Human Genome Sequencing Consortium was constructed by melding together sequence segments derived from over 20,000 large-insert clones1. All of the results of this analysis are available on a web site maintained by the University of California at Santa Cruz (http://genome.ucsc.edu). Over...