Projects GTEx
Curation of GTEx — listings under the Projects tab.
Summary Table
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GTEx Core
GTEx — Initial project report
PUBMED_LINK
STAGE_PERIOD
2013
DESCRIPTION
First comprehensive description of the GTEx project design, including tissue collection protocols, RNA-seq and genotyping methods, and the initial data release strategy.
URL
TITLE
The Genotype-Tissue Expression (GTEx) project
GTEx — Pilot phase (v3)
STAGE_PERIOD
~2011–2015
DESCRIPTION
Multitissue RNA-seq and genotyping in ~175 donors across 43 tissues; defined tissue-specific and shared cis-eQTL architecture and established GTEx as the reference expression resource.
URL
GTEx — High-quality postmortem tissue procurement
PUBMED_LINK
STAGE_PERIOD
2015
DESCRIPTION
Description of the novel approach to high-quality postmortem tissue procurement for the GTEx project.
URL
TITLE
A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project
GTEx — Production scale-up
STAGE_PERIOD
mid-program
DESCRIPTION
Increased donor count, read depth, and tissue coverage with harmonized QC; broadened power for splicing QTLs, ASE, and cross-tissue meta-analysis.
URL
GTEx — Pilot analysis: multitissue gene regulation
PUBMED_LINK
STAGE_PERIOD
2015
DESCRIPTION
Pilot analysis of RNA-seq data from ~175 donors across 43 tissues, demonstrating tissue-specific and shared cis-eQTL architecture.
URL
TITLE
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
GTEx — Human transcriptome across tissues and individuals
PUBMED_LINK
STAGE_PERIOD
2015
DESCRIPTION
Comprehensive analysis of transcriptome variation across tissues and individuals, revealing that tissue identity is the primary driver of expression variation.
URL
TITLE
The human transcriptome across tissues and individuals
GTEx — Bulk atlas releases (v6p / v8)
STAGE_PERIOD
stable releases
DESCRIPTION
Large stable releases (notably v6p and v8) distributing expression matrices, covariates, and variant calls; default inputs for TWAS, colocalization, and enrichment after GWAS.
URL
GTEx — Genetic effects on gene expression across tissues
PUBMED_LINK
STAGE_PERIOD
2017
DESCRIPTION
Analysis of genetic effects on gene expression using 7,051 RNA-seq samples from 449 donors across 44 tissues. Identified thousands of cis- and trans-eQTLs.
URL
TITLE
Genetic effects on gene expression across human tissues
GTEx — X chromosome inactivation across tissues
PUBMED_LINK
STAGE_PERIOD
2017
DESCRIPTION
Landscape analysis of X chromosome inactivation across 29 tissues, identifying genes that escape XCI and demonstrating tissue-specific patterns with implications for sex-differences in complex traits.
URL
TITLE
Landscape of X chromosome inactivation across human tissues
GTEx — v8 atlas of genetic regulatory effects
PUBMED_LINK
STAGE_PERIOD
2020
DESCRIPTION
v8 flagship paper: comprehensive atlas of genetic regulatory effects across 49 human tissues from 838 donors. Includes cis-eQTL, trans-eQTL, sQTL, and expression correlation networks.
URL
TITLE
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx — Extensions & ancillary studies
STAGE_PERIOD
ongoing
DESCRIPTION
Single-cell pilots, additional molecular assays, and integration with other consortia complement the core bulk RNA-seq atlas and support finer-resolution interpretation of regulatory variation.
URL
GTEx — Cell-type-specific genetic regulation of expression
PUBMED_LINK
STAGE_PERIOD
2020
DESCRIPTION
Cell-type-specific eQTL analysis using computational deconvolution of bulk GTEx RNA-seq data across multiple tissues.
URL
TITLE
Cell type-specific genetic regulation of gene expression across human tissues
GTEx — Splicing QTL across multiple tissues
PUBMED_LINK
STAGE_PERIOD
2021
DESCRIPTION
Identification and analysis of splicing QTLs across 49 tissues in GTEx v8. sQTLs were less tissue-shared than eQTLs and enriched at GWAS loci.
URL
TITLE
Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
GTEx — Transcriptome variation revealed by long-read sequencing
PUBMED_LINK
STAGE_PERIOD
2022
DESCRIPTION
Long-read RNA sequencing across GTEx tissues revealed extensive transcriptome variation including novel isoforms, fusion transcripts, and full-length isoform structures.
URL
TITLE
Transcriptome variation in human tissues revealed by long-read sequencing