Progress and challenges in genome-wide association studies in humans

Nature. 2008 Dec 11;456(7223):728-31. doi: 10.1038/nature07631.


After more than a decade of hope and hype, researchers are finally making inroads into understanding the genetic basis of many common human diseases. The use of genome-wide association studies has broken the logjam, enabling genetic variants at specific loci to be associated with particular diseases. Genetic association data are now providing new routes to understanding the aetiology of disease, as well as new footholds on the long and difficult path to better treatment and disease prevention.

MeSH terms

  • Genetic Predisposition to Disease / genetics*
  • Genetic Privacy
  • Genome-Wide Association Study / trends*
  • Genotype
  • Humans
  • Phenotype
  • Risk