Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Research Highlight
  • Published:

GENE EXPRESSION

Reaching completion for GTEx

Nature Reviews Genetics volume 21, page 717 (2020)Cite this article

Subjects

The Genotype–Tissue Expression (GTEx) consortium has worked for more than a decade to characterize the genetic determinants of human gene expression across tissues. In five main papers in Science, as well as additional papers in other journals, the consortium recently reported results from the third and final phase of the project. They provide unprecedented detail of gene expression regulation, including expression-associated genetic variants for the majority of genes in the genome, mechanistic insights into complex traits, and influences of sex, ancestry and cell-type composition.

The main summary paper by the GTEx consortium provides an overview of the latest data and findings. The data set of 838 donors and 15,201 samples across 49 tissues is approximately twice the size of the phase two results presented in 2017. Overall, 4,278,636 genetic variants were associated with gene expression. At least one associated cis expression quantitative trait locus (cis-eQTL) was identified for 94.7% of all protein-coding genes. Analysing the rate of discovery of new eQTLs with increasing sample size indicated that the latest sample size is sufficient to have largely saturated the discovery of those eQTLs with greater than twofold effect sizes on gene expression.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

Original articles

  • The GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318–1330 (2020)

    Article  Google Scholar 

  • Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, eaaz5900 (2020)

    Article  Google Scholar 

  • Oliva, M. et al. The impact of sex on gene expression across human tissues. Science 369, eaba3066 (2020)

    Article  CAS  Google Scholar 

  • Kim-Hellmuth, S. et al. Cell type-specific genetic regulation of gene expression across human tissues. Science 369, eaaz8528 (2020)

    Article  CAS  Google Scholar 

  • Demanelis, K. et al. Determinants of telomere length across human tissues. Science 369, eaaz6876 (2020)

    Article  CAS  Google Scholar 

Related article

  • Hekselman, I. & Yeger-Lotem, E. Mechanisms of tissue and cell-type specificity in heritable traits and diseases. Nat. Rev. Genet. 21, 137–150 (2020)

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Nature Reviews Genetics http://www.nature.com/nrg/

    Darren J. Burgess

Authors
  1. Darren J. Burgess
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Darren J. Burgess.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Burgess, D.J. Reaching completion for GTEx. Nat Rev Genet 21, 717 (2020). https://doi.org/10.1038/s41576-020-00296-7

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41576-020-00296-7

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing