Nature Communications (May 2018)

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

  • Alvaro N. Barbeira,
  • Scott P. Dickinson,
  • Rodrigo Bonazzola,
  • Jiamao Zheng,
  • Heather E. Wheeler,
  • Jason M. Torres,
  • Eric S. Torstenson,
  • Kaanan P. Shah,
  • Tzintzuni Garcia,
  • Todd L. Edwards,
  • Eli A. Stahl,
  • Laura M. Huckins,
  • GTEx Consortium,
  • Dan L. Nicolae,
  • Nancy J. Cox,
  • Hae Kyung Im

DOI
https://doi.org/10.1038/s41467-018-03621-1
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 20

Abstract

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Phenotypic variation and diseases are influenced by factors such as genetic variants and gene expression. Here, Barbeira et al. develop S-PrediXcan to compute PrediXcan results using summary data, and investigate the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes.