GWAS eBook

Genome-wide association study (GWAS) technology has been a primary method for identifying the genes responsible for diseases and other traits for the past ten years. GWAS continues to be highly relevant as a scientific method. Over 2,000 human GWAS reports now appear in scientific journals.

This ebook aims to explain the basic steps and concepts to complete a GWAS experiment and address how these steps are implemented in SVS. In Chapter 1 we start with an introduction to GWAS exploring its biology and origins as well as the practical use of GWAS. Next, we will look at performing a GWAS in the context of the SVS software, discussing quality control, including sample statistics, heterozygosity, LD pruning, population stratification and identity by descent. We also take a look at how to impute data within SVS. From there we move on to genotype association testing and we close with a walk through conducting a Meta-Analysis.

This eBook will cover:

  • The underlying biology for GWAS
  • How common variants are established
  • Design principles for GWAS
  • How a GWAS analysis is conducted within the SNP and Variation Suite™ software (SVS)

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