Genome-wide association study

A genome-wide association study (GWAS) is a scientific study that tells what genes are linked, or associated, with a disease or trait. They do this by studying lots of people with the disease, and comparing their genes to lots of people without the disease.

Genome-wide Association Study Media

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  An illustration of a Manhattan plot depicting several strongly associated risk loci. Each dot represents a SNP, with the X-axis showing genomic location and Y-axis showing association level.

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  GWA studies typically identify common variants with small effect sizes (lower right).

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  Example calculation illustrating the methodology of a case-control GWA study. The allele count of each measured SNP is evaluated—in this case with a chi-squared test—to identify variants associated with the trait in question.

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  Illustration of a simulated genotype by phenotype regression for a single SNP. Each dot represents an individual. A GWAS of a continuous trait essentially consists of repeating this analysis at each SNP.

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  A plot of the association of SNPs in the LDLR region with LDL-cholesterol

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  A scatter plot of the relationship between the minor allele frequency and the effect size of genome wide significant variants in a GWAS of height. Each dot is a SNP.