articleNatureOct 10, 2017HYBRID OA

Genetic effects on gene expression across human tissues

TT Taru TukiainenKH Katherine H. HuangKG Kristin G. ArdlieDG Daniel G. MacArthurXL Xiao Li

Broad Institute · Harvard University · +85 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we…

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Authors

483
  • TT
     Taru TukiainenCorresponding

    Broad Institute, Harvard University, Johns Hopkins University, Massachusetts General Hospital, Massachusetts Institute of Technology

  • KH
     Katherine H. Huang

    Broad Institute, Harvard University, Massachusetts Institute of Technology, University of Pennsylvania

  • KG
     Kristin G. Ardlie

    Broad Institute, Harvard University, Princeton University, Massachusetts Institute of Technology

  • DG
     Daniel G. MacArthur

    Broad Institute, Harvard University, Massachusetts General Hospital, Massachusetts Institute of Technology, Stanford University

  • XL
     Xiao Li

    Broad Institute, Harvard University, Massachusetts Institute of Technology, Stanford University

Topics & keywords

Topics
Keywords
  • Gene expression
  • Gene
  • Biology
  • Genetics
  • Expression (computer science)
  • Computational biology
  • Evolutionary biology
  • Computer science
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