A Haplotype Map of the Human Genome: Outline

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

A Haplotype Map of the Human Genome

David Altshuler
Harvard Medical School, Massachusetts General Hospital, Whitehead Institute

Eric Lander
Whitehead Institute and MIT


The next key step of the Human Genome Project (HGP) (following the creation of the genetic, physical, sequence and SNP maps) is the generation of a "haplotype" map of the human genome. Such a "haplotype" map consists of a high density of SNPs defining the small number of ancestral haplotypes (blocks of tightly correlated genetic variants) in each region of the human genome. Knowledge of these haplotypes will allow comprehensive and efficient testing of the association of human genes with human diseases. The haplotype map can and should be generated rapidly and should be made freely available to researchers worldwide.


A haplotype map of the human genome has become both justified and practical due to significant advances over the last two years.

Specifically, these advances include:

Impact on biomedical research

The availability of a haplotype map of the human genome will have a substantial impact on human genetic studies.

Specifically, these studies include:

Technical Issues

Generating a haplotype map would involve the following components:

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Last Reviewed: February 22, 2012