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The completion of the International HapMap Project marks the start of a new phase in human genetics. The aim of the project was to provide a resource that facilitates the design of efficient genome-wide association studies, through characterising patterns of genetic variation and linkage disequilibrium in a sample of 270 individuals across four geographical populations. In total, over one million SNPs have been typed across these genomes, providing an unprecedented view of human genetic diversity. In this review we focus on what the HapMap Project has taught us about the structure of human genetic variation and the fundamental molecular and evolutionary processes that shape it.

Original publication




Journal article


PLoS Genet

Publication Date





Alleles, Chromosome Mapping, Evolution, Molecular, Genetic Variation, Genetics, Population, Genome, Human, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide