Experimental design and statistical analysis of SNP data

This is a description of how to design and analyse SNP experiments in genetic association studies for complex diseases.

Experimental design

There are two main groups of designs for genetic associations studies. These are case-control designs and family-based designs. Here we will concentrate on case-control designs, where we have cases with disease and controls, which are unrelated to the cases, without disease. There are three main issues concerning the experimental design. These are

How to select the individuals for the study.

Which SNPs to genotype.

Whether to use DNA pooling or not.

Statistical analysis

After the SNPs are genotyped, they should be analysed using statistical analysis methods to find which of the examined SNPs that are associated with disease. A SNP is associated with disease if it is a causal SNP or if it is in linkage disequilibrium with a causal SNP.

PowerPoint presentation

The PowerPoint presentation "Introduction to experimental design and statistical analysis in genetic association studies" is found here. A reference list with relevant literature is included in this presentation.