The Human Genome Project

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The Human Gene Project
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.
The ultimate goal of the Human Genome Project is to produce a single continuous sequence for each of the 24 human chromosomes and to define the positions of all genes. The working draft sequence described by the International Human Genome Sequencing Consortium was constructed by melding together sequence segments resulting from over 20,000 large-insert clones. Over the next few years, draft quality sequence will be steadily replaced by more accurate data. The National Center for Biotechnology Information has developed a system for rapidly regenerating the genomic sequence and gene annotation as sequences of the original clones are revised. Undoubtedly, others will apply a variety of approaches to large-scale explanation of genes and other features. One such project is Ensembl, a joint project of the European Bioinformatics Institute and the Sanger Centre.
Recent estimates have placed the number of human genes at 25,000–35,000 (refs 2, 3). More than 10,000 human genes have been catalogued in the Online Mendelian Inheritance in Man (ref 4), which documents all inherited human diseases and their causal gene mutations. Integration of the information contained in Online Mendelian Inheritance in Man or OMIM, with the working draft is facilitated by the fact that it has already been tied to refere...