The HapMap Resource is Providing New Insights into Ourselves and its Application to Pharmacogenomics

Bioinform Biol Insights. 2008;2:15-23. doi: 10.4137/bbi.s455. Epub 2008 Feb 1.


The exploration of quantitative variation in complex traits such as gene expression and drug response in human populations has become one of the major priorities for medical genetics. The International HapMap Project provides a key resource of genotypic data on human lymphoblastoid cell lines derived from four major world populations of European, African, Chinese and Japanese ancestry for researchers to associate with various phenotypic data to find genes affecting health, disease and response to drugs. Recent progress in dissecting genetic contribution to natural variation in gene expression within and among human populations and variation in drug response are two examples in which researchers have utilized the HapMap resource. The HapMap Project provides new insights into the human genome and has applicability to pharmacogenomics studies leading to personalized medicine.

Keywords: HapMap; gene expression; genotype; lymphoblastoid cell lines; population genetics.