11.11 Conclusion

In this lab, we explored the GTEx dataset to understand how genetic variation impacts gene expression.

• We can treat gene expression as a phenotype to search for expression and splicing QTLs, the same way we would look for variants associated with an organismal trait.
  
  
• Due to the multiple testing burden of testing millions of variants across thousands of genes, eQTL studies typically limit themselves to variants close to the gene body.
  
  
• The GTEx Portal provides a convenient interface for browsing QTL and gene expression information across tissues.

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