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The Genotype-Tissue Expression Project

The panorama of human phenotypes arises from a mix of common and rare genetic variants, some of which affect how genes are expressed and spliced throughout the body. More than a decade ago, scientists aiming to better understand the effects of genetic diversity in healthy individuals launched the Genotype-Tissue Expression (GTEx) Consortium. The efforts of the GTEx Consortium have led to the development of numerous tools and provide a comprehensive resource for the scientific community. Here, we list the papers published in Science, Science Advances, as well as non-Science journals for the third and final phase of the project, presenting the results from the analysis of the version 8 (v8) GTEx release.

For additional recent Science collections, see here.

 

The GTEx Consortium atlas of genetic regulatory effects across human tissues
The GTEx Consortium
Journal Article | Science Date: 10-Sep-2020 DOI: 10.1126/science.aaz1776

 

The impact of sex on gene expression across human tissues
Meritxell Oliva, Manuel Muñoz-Aguirre, Sarah Kim-Hellmuth, Valentin Wucher, Ariel D. H. Gewirtz, Daniel J. Cotter, Princy Parsana, Silva Kasela, Brunilda Balliu, Ana Viñuela, Stephane E. Castel, Pejman Mohammadi, François Aguet, Yuxin Zou, Ekaterina A. Khramtsova, Andrew D. Skol, Diego Garrido-Martín, Ferran Reverter, Andrew Brown, Patrick Evans, Eric R. Gamazon, Anthony Payne, Rodrigo Bonazzola, Alvaro N. Barbeira, Andrew R. Hamel, Angel Martinez-Perez, José Manuel Soria, GTEx Consortium, Brandon L. Pierce, Matthew Stephens, Eleazar Eskin, Emmanouil T. Dermitzakis, Ayellet V. Segrè, Hae Kyung Im, Barbara E. Engelhardt, Kristin G. Ardlie, Stephen B. Montgomery, Alexis J. Battle, Tuuli Lappalainen, Roderic Guigó, Barbara E. Stranger
Journal Article | Science Date: 10-Sep-2020 DOI: 10.1126/science.aba3066

 

Cell type–specific genetic regulation of gene expression across human tissues
Sarah Kim-Hellmuth, François Aguet, Meritxell Oliva, Manuel Muñoz-Aguirre, Silva Kasela, Valentin Wucher, Stephane E. Castel, Andrew R. Hamel, Ana Viñuela, Amy L. Roberts, Serghei Mangul, Xiaoquan Wen, Gao Wang, Alvaro N. Barbeira, Diego Garrido-Martín, Brian Nadel, Yuxin Zou, Rodrigo Bonazzola, Jie Quan, Andrew Brown, Angel Martinez-Perez, José Manuel Soria, GTEx Consortium, Gad Getz, Emmanouil T. Dermitzakis, Kerrin S. Small, Matthew Stephens, Hualin S. Xi, Hae Kyung Im, Roderic Guigó, Ayellet V. Segrè, Barbara E. Stranger, Kristin G. Ardlie, Tuuli Lappalainen
Journal Article | Science Date: 10-Sep-2020 DOI: 10.1126/science.aaz8528

 

Determinants of telomere length across human tissues
Kathryn Demanelis, Farzana Jasmine, Lin S. Chen, Meytal Chernoff, Lin Tong, Dayana Delgado, Chenan Zhang, Justin Shinkle, Mekala Sabarinathan, Hannah Lin, Eduardo Ramirez, Meritxell Oliva, Sarah Kim-Hellmuth, Barbara E. Stranger, Tsung-po Lai, Abraham Aviv, Kristin G. Ardlie, François Aguet, Habibul Ahsan, GTEx Consortium, Jennifer Doherty, Muhammad G. Kibriya, Brandon L. Pierce
Journal Article | Science Date: 10-Sep-2020 DOI: 10.1126/science.aaz6876

 

Transcriptomic signatures across human tissues identify functional rare genetic variation
Nicole M. Ferraro, Benjamin J. Strober, Jonah Einson, Nathan S. Abell, Francois Aguet, Alvaro N. Barbeira, Margot Brandt, Maja Bucan, Stephane E. Castel, Joe R. Davis, Emily Greenwald, Gaelen T. Hess, Austin T. Hilliard, Rachel L. Kember, Bence Kotis, YoSon Park, Gina Peloso, Shweta Ramdas, Alexandra J. Scott, Craig Smail, Emily K. Tsang, Seyedeh M. Zekavat, Marcello Ziosi, Aradhana, TOPMed Lipids Working Group, Kristin G. Ardlie, Themistocles L. Assimes, Michael C. Bassik, Christopher D. Brown, Adolfo Correa, Ira Hall, Hae Kyung Im, Xin Li, Pradeep Natarajan, GTEx Consortium, Tuuli Lappalainen, Pejman Mohammadi, Stephen B. Montgomery, Alexis Battle
Journal Article | Science Date: 10-Sep-2020 DOI: 10.1126/science.aaz5900

 

Tissue-specific genetic features inform prediction of drug side effects in clinical trials
Áine Duffy et al.
Research Article | Science Advances Date: 10-Sep-2020 DOI: 10.1126/sciadv.abb6242

 

PhenomeXcan: Mapping the genome to the phenome through the transcriptome
Milton Pividori et al.
Research Article | Science Advances Date: 10-Sep-2020 DOI: 10.1126/sciadv.aba2083

 

PTWAS: investigating tissue-relevant causal molecular mechanisms of complex traits using probabilistic TWAS analysis
Yuhua Zhang, Corbin Quick, Ketian Yu, Alvaro Barbeira, The GTEx Consortium, Francesca Luca, Roger Pique-Regi, Hae Kyung Im, Xiaoquan Wen
Journal Article | Genome Biology Date: 10-Sep-2020 DOI: 10.1186/s13059-020-02026-y

 

Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx
Nicole R. Gay, Michael Gloudemans, Margaret L. Antonio, Nathan S. Abell, Brunilda Balliu, YoSon Park, Alicia R. Martin, Shaila Musharoff, Abhiram Rao, François Aguet, Alvaro Barbeira, Rodrigo Bonazzola, Farhad Hormozdiari, GTEx Consortium, Kristin G. Ardlie, Christopher D. Brown, Hae Kyung Im, Tuuli Lappalainen, Xiaoquan Wen, Stephen B. Montgomery
Journal Article | Genome Biology Date: 10-Sep-2020 DOI: 10.1186/s13059-020-02113-0

 

A vast resource of allelic expression data spanning human tissues
Stephane E. Castel, François Aguet, Pejman Mohammadi, GTEx Consortium, Kristin G. Ardlie, Tuuli Lappalainen
Journal Article | Genome Biology Date: 10-Sep-2020 DOI: 10.1186/s13059-020-02122-z

 

Primo: integration of multiple GWAS and omics QTL summary statistics for elucidation of molecular mechanisms of trait-associated SNPs and detection of pleiotropy in complex traits
Kevin J. Gleason, Fan Yang, Brandon L. Pierce, Xin He, Lin S. Chen
Journal Article | Genome Biology Date: 10-Sep-2020 DOI: 10.1186/s13059-020-02125-w

 

A polyclonal allelic expression assay for detecting regulatory effects of transcript variants
Margot K. Brandt, Alper Gokden, Marcello Ziosi, Tuuli Lappalainen
Journal Article | Genome Medicine Date: 10-Sep-2020 DOI: 10.1186/s13073-020-00777-8

 

sn-spMF: matrix factorization informs tissue-specific genetic regulation of gene expression
Yuan He, Surya B. Chhetri, Marios Arvanitis, Kaushik Srinivasan, François Aguet, Kristin G. Ardlie, Alvaro N. Barbeira, Rodrigo Bonazzola, Hae Kyung Im, GTEx Consortium, Christopher D. Brown, Alexis Battle
Journal Article | Genome Biology Date: 10-Sep-2020 DOI: 10.1186/s13059-020-02129-6

 

A Quantitative Proteome Map of the Human Body
Lihua Jiang, Meng Wang, Shin Lin, Ruiqi Jian, Xiao Li, Joanne Chan, Guanlan Dong, Huaying Fang, Aaron E. Robinson, GTEx Consortium, Michael P. Snyder
Journal Article | Cell Date: 10-Sep-2020 DOI: 10.1016/j.cell.2020.08.036

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