The road to genome-wide association studies

Nat Rev Genet. 2008 Apr;9(4):314-8. doi: 10.1038/nrg2316. Epub 2008 Feb 19.


The recent crop of results from genome-wide association studies might seem like a sudden development. However, this blooming follows a long germination period during which the necessary concepts, resources and techniques were developed and assembled. Here, I look back at how the necessary pieces fell into place, focusing on the less well-chronicled days before the launch of the HapMap project, and speculate about future developments.

Publication types

  • Historical Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Case-Control Studies
  • Chromosome Mapping
  • Genetic Variation
  • Genome, Human*
  • Genomics / history
  • Genomics / methods*
  • Genomics / trends
  • History, 18th Century
  • History, 20th Century
  • Humans
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide