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November 2001

The Human Genome Is Sequenced: What Does It Mean and Why Is It Important?

Arch Neurol. 2001;58(11):1748-1749. doi:10.1001/archneur.58.11.1748

WITH MEDIA fanfares around the world, the sequence of the human genome has been announced. Science1 and Nature2 and Time and Newsweek have each covered this momentous event—an event analogous, in some ways, to the mapping of the world. Figure 1 shows the known world in 1700: much of the information is broadly accurate but some pieces are spectacularly absent (Eastern Siberia, Eastern Australia, and Northern Canada) and large sections of the map are accurate only in the their generalities and would not withstand close scrutiny (the precise shape of Central America and the Western seaboard of the United States, for example). Similarly, the human genome map is missing large sections and has many errors of detail. Our laboratory, for example, is currently interested in cloning the lubag locus on the X chromosome and looking at the parkin gene promoter on chromosome 6. Maps at both loci are still deficient and much work needs to be done. However, we can now see the general shape of the human genome and with each day the image will improve. During the next 5 years, we will undoubtedly develop a satellite view of the consensus human genome.

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