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© 2005 Oxford University Press
NEWS |
Latest HapMap Update Aims to Direct Researchers to Genetic Basis of Disease
| The first 150 words of the full text of this article appear below. |
When scientists decoded the human genome, they produced the genetic blueprint for an abstract, generic individual who doesn't really exist. Compiled from a few anonymous samples, the DNA sequence derived by the Human Genome Project represented a typical human but offered few insights into the genetic variation that drives individual features, such as physical appearance and disease susceptibility. Because everyone on the planet is more than 99.9% genetically identical, this abstract template was a logical place to start.
More recently, however, scientists have focused on the residual variation, hoping to identify new genetic markers for disease and targets for drug therapy. The variations of most interest are simple DNA "spelling errors" called single-nucleotide polymorphisms (SNPs). The precise number of SNPs, although unknown, likely approaches 10 million, scientists say. Fortunately, scientists don't have to assess each SNP independently to establish its role in disease. This is because related SNPs tend to
Phase 2 HapMap Introduced
A Focus on Common Variants
Limited Diversity?
Toward the Future
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