7.10 Conclusion

In this lab, we gave a conceptual overview of genome-wide association studies.

• GWAS are an attempt to answer one of the oldest questions in genetics: How does genotype impact phenotype?
  
  
• In GWAS, you go through every variant in the genome and fit a linear model to ask if genotype at that variant is associated with a phenotype of interest. Multiple testing correction accounts for the statistical burden of these tests.
  
  
• Linkage disequilibrium helps us discover more GWAS hits, but also limits our ability to identify causal variants/genes.
  
  
• QQ plots and Manhattan plots are common visualizations of GWAS results.

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