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The aim of the workshop, which was jointly sponsored by the National Cancer Institute and the National Human Genome Research Institute (NHGRI), was to explore ways to link human genetic variation with cancer risk assessment, detection, prevention, and treatment.
Known as the International HapMap Project, the collaboration—which began in October 2002—includes scientists from the United States, Japan, the United Kingdom, Canada, China, and Nigeria.
The project is named HapMap after the term haplotype, a set of associated single nucleotide polymorphism (SNP) alleles in a region of a chromosome. About 10 million somewhat common SNPs—sites in the genome where the DNA sequences of many people differ by a single base—are thought to exist in human populations.
While the DNA sequences of any two unrelated people are about 99.9% the same, it is the 0.1% that contain the genetic variants that determine differences in cancer risk and response to therapy.
This past November the HapMap project publicly released data on 13 million genotypes from 145,554 SNPs. The hope is to publicly release a wealth of similar data over the next two years.
Consistent with the concept that modern human beings had a common origin in Africa, research so far shows that most haplotypes are shared among populations on different continents and that very few individual alleles are specific to any one population, noted Lynn B. Jorde, PhD, Professor of Human Genetics at the University of Utah School of Medicine.