Monday, June 1, 2009

A good GWAS review for the uninitiated

GWAS reviews are a dime a dozen these days, but I found this one in particular that's a good up-to-date review suitable for people relatively new to the field. While this one has a focus on psychiatric genetics, it has a short summary on topics like positional methods, candidate gene studies, common variation, rare variation, CNVs, GWAS design, and issues concerning power and sample size. There's a table defining some basic terminology, a timeline of methods from linkage to the 1000 genomes project, and a table summarizing potentially problematic GWAS design issues.

Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders (Pubmed)

For other links to send new folks joining your group, check out posts tagged with Tutorials or Recommended Reading.


  1. Hi Stephen,

    I've learnt a lot from this blog, thanks. Recently, writting up for my thesis, and come to the point to talk about GWAS statistical power.

    I read the paper you posted here, just a question on the genetic relative risks the authors talked about, from the paper, I actually feel it can also be understood as odds ratios (although GRR is not the same as OR). I'm really confused, or I'm wrong in case of interpreting GRRs in the paper to odds ratios.

    Sorry to bother you with you. Much appreciated for your opinions.


  2. OR and RR are similar. OR is an estimate of RR using a case-control study. Read more about that relationship here.


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