HapMap Project

Abstract

The inception of the International Haplotype Map Project (http://www.hapmap.org/) and completion of stages I and II of this project has led to the production and public dissemination of a map of patterns of human genetic diversity in four populations; Japanese from Tokyo, Central Europeans from Utah, Han Chinese and Yorubans from Nigeria. These data present unprecedented opportunities in human genetics; they provide invaluable information on human evolutionary history and for the first time present a roadmap for mapping genetic variability that underlies complex traits. The invention and application of ultra‚Äźhigh throughput genotyping technologies is beginning to realize this latter goal, even in the early days of this effort the HapMap Project is proving worth the time and resources invested thus far.

Keywords: haplotype; single nucleotide polymorphism; genetics; diversity

References

Barnes MR (2006) Navigating the HapMap. Briefings in Bioinformatics 7: 211–224.

Carlson CS, Eberle MA, Rieder MJ et al. (2004) Selecting a maximally informative set of single‐nucleotide polymorphisms for association analyses using linkage disequilibrium. American Journal of Human Genetics 74: 106–120.

Gabriel SB, Schaffner SF, Nguyen H et al. (2002) The structure of haplotype blocks in the human genome. Science 296: 2225–2229.

Gonzalez‐Neira A, Ke X, Lao O et al. (2006) The portability of tagSNPs across populations: a worldwide survey. Genome Research 16: 323–330.

Kruglyak L and Nickerson DA (2001) Variation is the spice of life. Nature Genetics 27: 234–236.

Petkov PM, Graber JH, Churchill GA et al. (2007) Evidence of a large‐scale functional organization of mammalian chromosomes. PLoS Biology 5: e127.

Risch N and Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273: 1516–1517.

Schmidt C (2005) Latest HapMap update aims to direct researchers to genetic basis of disease. Journal of the National Cancer Institute 97: 1638–1640.

The International HapMap Consortium (2003) The International HapMap Project. Nature 426: 789–796.

The International HapMap Consortium. (2005) A haplotype map of the human genome. Nature 437: 1299–1320.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Traynor, Bryan J, and Singleton, Andrew(Mar 2008) HapMap Project. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020796]