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Guide to the draft human genome

Nature. 2001 Feb 15;409(6822):824-6. doi: 10.1038/35057000.

Abstract

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.

MeSH terms

  • Amino Acid Sequence
  • Chromosome Mapping
  • Computational Biology
  • Genes
  • Genetic Variation
  • Genome, Human*
  • Human Genome Project*
  • Humans
  • Internet
  • Molecular Sequence Data
  • Sequence Analysis, DNA