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Concepts and relevance of genome-wide association studies

Posted on 11. March, 2016.

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The science of genome-wide association studies (GWAS) emerged about a decade ago as a powerful scientific tool to identify genes associated with the outward traits of an organism. GWAS has been developed as a primary method for the identification of disease susceptibility genes in humans. 

More recently, GWAS technology has experienced rapid growth in non-human applications, particularly in the burgeoning field of agrigenomics. High-throughput genotyping arrays are now available for numerous animals and crop species, enabling scientists and plant and animal breeders to improve breeding programs and food production through genetics.
Here, the authors present an overview of GWAS concepts: the underlying biology, the origins of the method, and the primary components of a GWAS experiment.

Read the full article in Science Progress, Volume 99, Number 1, March 2016, pp. 59-67.

Authors: Andreas Scherer, G. Bryce Christensen

Dr Andreas Scherer is President and CEO of Golden Helix, Inc, a leading DNA analytics company. He holds a PhD in Computer Science from the University of Hagen, Germany. He is the author and co-author of over 20 international publications and has written books on project management, the internet and artificial intelligence.

Dr Bryce Christensen holds a PhD in Biomedical Informatics from the University of Utah in Salt Lake City, USA. Bryce has extensive professional experience with statistical analysis of whole-genome data from both microarray and next-generation sequencing platforms.


Image: Genotypes and haplotypes. This illustration depicts four SNP loci in the genomes of three subjects. Each subject has two haplotypes, corresponding to the two copies of each chromosome typically present in human cells. Suppose that the C allele at SNP-2 causes a certain trait, but that SNP is not genotyped. The G allele at SNP-3 always occurs on the same haplotype with the causal allele, and if genotyped may serve as a proxy for the causal allele in GWAS tests. Further inspection shows that the causal allele always occurs on the A–C–G–A haplotype, and may also be detected using haplotype association testing.