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What is the International HapMap Project?

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The International HapMap Project is an international scientific effort to identify common genetic variations among people. This project represents a collaboration of scientists from public and private organizations in six countries. Data from the project is freely available to researchers worldwide. Researchers can use the data to learn more about the relationship between genetic differences and human disease.

The HapMap (short for “haplotype map”) is a catalog of common genetic variants called single nucleotide polymorphisms or SNPs (pronounced “snips”).  Each SNP represents a difference in a single DNA building block, called a nucleotide.  These variations occur normally throughout a person’s DNA. When several SNPs cluster together on a chromosome, they are inherited as a block known as a haplotype.  The HapMap describes haplotypes, including their locations in the genome and how common they are in different populations throughout the world.    

The human genome contains roughly 10 million SNPs. It would be difficult, time-consuming, and expensive to look at each of these changes and determine whether it plays a role in human disease. Using haplotypes, researchers can sample a selection of these variants instead of studying each one. The HapMap will make carrying out large-scale studies of SNPs and human disease (called genome-wide association studies) cheaper, faster, and less complicated.

The main goal of the International HapMap Project is to describe common patterns of human genetic variation that are involved in human health and disease. Additionally, data from the project will help researchers find genetic differences that can help predict an individual’s response to particular medicines or environmental factors (such as toxins.)

For more information about the International HapMap Project:

The National Human Genome Research Institute provides an overview of the project in their International HapMap Project fact sheetThis link leads to a site outside Genetics Home Reference.. The fact sheet also includes a link to a more in-depth online tutorial on HapMap usage.

Detailed information about the project, as well as project data, are available from the International HapMap Project web siteThis link leads to a site outside Genetics Home Reference..

You can also search for clinical trials involving haplotypes or associated with the International HapMap Project. ClinicalTrials.govThis link leads to a site outside Genetics Home Reference., a service of the National Institutes of Health, provides easy access to information on clinical trials. You can search for specific trials or browse by condition or trial sponsor. You may wish to refer to a list of haplotype-related studiesThis link leads to a site outside Genetics Home Reference. that are accepting (or will accept) participants.

Next: What is the Encyclopedia of DNA Elements (ENCODE) Project?

Published: February 11, 2013