Perspectives on human genetic variation from the HapMap Project.

Gil McVean; Chris C A Spencer; Raphaelle Chaix

doi:10.1371/journal.pgen.0010054

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Perspectives on human genetic variation from the HapMap Project.

Gil McVean·Chris C A Spencer·Raphaelle Chaix

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Abstract

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.

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Alleles Chromosome Mapping Evolution, Molecular Genetic Variation Genetics, Population Genome, Human Humans Linkage Disequilibrium Polymorphism, Single Nucleotide Journal Article Research Support, Non-U.S. Gov't

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Gil McVean, Chris C A Spencer, Raphaelle Chaix. 2005. Perspectives on human genetic variation from the HapMap Project.. https://doi.org/10.1371/journal.pgen.0010054

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