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Talking Glossary of Genetic Terms

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Francis S. Collins, M.D., Ph.D. defines HapMap

HapMap

HapMap (short for "haplotype map") is the nickname of the International HapMap Project, an international project that seeks to relate variations in human DNA sequences with genes associated with health. A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together. A haplotype can refer to a combination of alleles or to a set of single nucleotide polymorphisms (SNPs) found on the same chromosome. The HapMap describes common patterns of genetic variation among people.

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HapMap

HapMap (short for "haplotype map") is the nickname of the International HapMap Project, an international project that seeks to relate variations in human DNA sequences with genes associated with health. A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together. A haplotype can refer to a combination of alleles or to a set of single nucleotide polymorphisms (SNPs) found on the same chromosome. The HapMap describes common patterns of genetic variation among people.

Narration Transcription

HapMap is really shorthand for "haplotype map". This was a project which was conducted in great intensity from about 2003 to 2006 to enable a determination of how it is that variation in the human genome travels in neighborhoods, and how those neighborhoods are boundaried, and how that is different between Europe and Asia, and Africa. The study involved looking at 270 DNA samples and characterizing their variation at a very high level of detail and understanding how these neighborhoods across chromosomes, some of which are as small as a thousand or so base pairs, and some of which are big as 100,000, basically allow the SNPs in that interval to travel in lock-step. This is what we call linkage disequilibrium, and the HapMap defined that across the whole genome for the first time in a way that is extremely valuable for trying to understand the relationship between variation and disease.


Doctor Profile

Francis S. Collins, M.D., Ph.D.

Francis S. Collins, M.D., Ph.D.

Occupation
Director, National Institutes of Health; Former Director, National Human Genome Research Institute

Biography
Dr. Francis S. Collins, director of the National Institutes of Health, is noted for his landmark discoveries of disease genes and his visionary leadership of the Human Genome Project, a complex multidisciplinary scientific enterprise directed at mapping and sequencing human DNA. Dr. Collins was the director of the National Human Genome Research Institute from 1993 to 2008. His research has led to the identification of genetic variants associated with type 2 diabetes and the genes responsible for cystic fibrosis, neurofibromatosis, Huntington's disease and Hutchinson-Gilford progeria syndrome. In 2007, Dr. Collins received the Presidential Medal of Freedom, the nation's highest civil award, for his revolutionary contributions to genetic research.

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