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 BaldingTutorial, and a review of more recent issues McCarthyReview. There is also a nice review about approaches for rodent studies FlintReview.

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. BaldingTutorial pmid=16983374
  2. McCarthyReview pmid=18398418