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GTEx v8 - selected articles

from Genome Biology and Genome Medicine

New Content Item © Fig 1, The GTEx Consortium Science 2020;369:1318-1330The Genotype-Tissue Expression project (GTEx) was launched in 2010, in order to build a catalog of how genetic variation affects gene expression. It consists of gene expression data from a variety of tissues from post mortem donors. The first set of results was published in 2015. The data from version 8 has just been released, with the main paper published in Science describing RNA sequencing data from 49 tissues from 838 individuals. Genome Biology and Genome Medicine are happy to publish these companion articles to the project. 


  1. To provide a comprehensive mechanistic interpretation of how known trait-associated SNPs affect complex traits, we propose a method, Primo, for integrative analysis of GWAS summary statistics with multiple set...

    Authors: Kevin J. Gleason, Fan Yang, Brandon L. Pierce, Xin He and Lin S. Chen

    Citation: Genome Biology 2020 21:236

    Content type: Method

    Published on:

  2. Genetic regulation of gene expression, revealed by expression quantitative trait loci (eQTLs), exhibits complex patterns of tissue-specific effects. Characterization of these patterns may allow us to better un...

    Authors: Yuan He, Surya B. Chhetri, Marios Arvanitis, Kaushik Srinivasan, François Aguet, Kristin G. Ardlie, Alvaro N. Barbeira, Rodrigo Bonazzola, Hae Kyung Im, Christopher D. Brown and Alexis Battle

    Citation: Genome Biology 2020 21:235

    Content type: Method

    Published on:

  3. Allele expression (AE) analysis robustly measures cis-regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from the GTEx v8 release, containing 15,253 samples spanning ...

    Authors: Stephane E. Castel, François Aguet, Pejman Mohammadi, Kristin G. Ardlie and Tuuli Lappalainen

    Citation: Genome Biology 2020 21:234

    Content type: Short Report

    Published on:

  4. Population structure among study subjects may confound genetic association studies, and lack of proper correction can lead to spurious findings. The Genotype-Tissue Expression (GTEx) project largely contains i...

    Authors: Nicole R. Gay, Michael Gloudemans, Margaret L. Antonio, Nathan S. Abell, Brunilda Balliu, YoSon Park, Alicia R. Martin, Shaila Musharoff, Abhiram S. Rao, François Aguet, Alvaro N. Barbeira, Rodrigo Bonazzola, Farhad Hormozdiari, Kristin G. Ardlie, Christopher D. Brown, Hae Kyung Im…

    Citation: Genome Biology 2020 21:233

    Content type: Research

    Published on:

  5. We propose a new computational framework, probabilistic transcriptome-wide association study (PTWAS), to investigate causal relationships between gene expressions and complex traits. PTWAS applies the establis...

    Authors: Yuhua Zhang, Corbin Quick, Ketian Yu, Alvaro Barbeira, Francesca Luca, Roger Pique-Regi, Hae Kyung Im and Xiaoquan Wen

    Citation: Genome Biology 2020 21:232

    Content type: Method

    Published on: