Genome Wide Association Studies

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Some people in our group work on genome wide association studies (GWAS).

Recommended reading

For an introduction to GWAS, with an emphasis on human studies, you could start with a nice tutorial article [1], and a review of more recent issues [2]. There is also a nice review about approaches for rodent studies [3].

Statistical Methodology


Many statistical methods are implemented in PLINK.

More sophisticated model based genotype imputation and association testing can be performed using IMPUTE and SNPTEST, or using MACH and [1] ProbABEL.

Our own software for association testing using uncertain genotypes is QUICKTEST.

  1. Balding DJ. A tutorial on statistical methods for population association studies. Nat Rev Genet 2006 Oct; 7(10) 781-91. doi:10.1038/nrg1916 pmid:16983374. PubMed HubMed [BaldingTutorial]
  2. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, and Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008 May; 9(5) 356-69. doi:10.1038/nrg2344 pmid:18398418. PubMed HubMed [McCarthyReview]
All Medline abstracts: PubMed HubMed