gtex

is a Data Source.

The Genotype-Tissue Expression (GTEx) project provides a comprehensive resource to study tissue-specific gene expression and regulation. Samples were collected from 54 non-diseased tissue sites across nearly 1000 individuals, primarily for molecular assays including WGS, WES, and RNA-Seq.

Domains

genomics, biomedical, anatomy and development

License

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Homepage

gtex

Repository

GitHub

Infores ID

infores:gtex

FAIRsharing ID

Unknown

Product Summary

Products

From this Resource
ID Name URL Category Format Description
gtex.portal GTEx Portal home GraphicalInterface http GTEx Portal web interface for explori...
gtex.bulk-data GTEx Bulk Data Downloads adult-gtex Product tsv Complete GTEx v8 data including gene ...
gtex.eqtl-data GTEx eQTL Data qtl Product tsv eQTL (expression quantitative trait l...
gtex.api GTEx REST API rest ProgrammingInterface json GTEx REST API for programmatic access...
gtex.dbgap-data GTEx dbGaP Data study.cgi?study_id=phs000424 Product vcf Individual-level genotype and phenoty...
From other Resources
ID Name URL Category Format Description
automat.gtex gtex_automat a6448b9092bb81a1 GraphProduct kgx-jsonl GTEx Automat
bioteque.embeddings Bioteque Embeddings embeddings Product ❔ Network embeddings of the Bioteque gr...
ubkg.neo4j UBKG Neo4j Docker Distribution ubkg-downloads.xconsortia.org GraphProduct ❔ Turnkey neo4j distributions that depl...
ubkg.csv UBKG Ontology CSV Files ubkg-downloads.xconsortia.org GraphProduct csv Ontology CSV files that can be import...
epigraphdb.graph EpiGraphDB Graph Database graph-database GraphProduct neo4j Integrated graph knowledge base combi...
genecards.expression.data ⚠ GeneCards Expression Data www.genecards.org Product http Gene expression data aggregated from ...

Details

GTEx (Genotype-Tissue Expression)

Overview

The Genotype-Tissue Expression (GTEx) project is a comprehensive public resource to study tissue-specific gene expression and its regulation. GTEx provides insights into the mechanisms of gene regulation by analyzing human gene expression across diverse tissues and linking expression patterns to genetic variation.

Data Collection

Sample Collection

  • Donors: Nearly 1,000 individuals (predominantly of European ancestry)
  • Tissues: 54 non-diseased tissue sites
  • Quality Control: Strict protocols for rapid tissue collection and processing
  • Sample Size: Over 17,000 tissue samples analyzed

Molecular Assays

  • RNA-Seq: Comprehensive transcriptomic profiling across all tissue samples
  • Whole Genome Sequencing (WGS): High-coverage sequencing for genetic variant detection
  • Whole Exome Sequencing (WES): Focused sequencing of protein-coding regions
  • Genotyping Arrays: Additional genotype data for population genetic analyses

Key Features

Expression Quantitative Trait Loci (eQTLs)

  • Systematic mapping of genetic variants affecting gene expression
  • Tissue-specific and cross-tissue eQTL analysis
  • Fine-mapping of causal variants
  • Integration with GWAS data for functional interpretation

Tissue-Specific Expression Patterns

  • Comparative analysis across 54 tissue types
  • Identification of tissue-specific genes and isoforms
  • Co-expression network analysis
  • Developmental and physiological expression patterns

Splicing Analysis

  • Genome-wide splicing QTL (sQTL) mapping
  • Alternative splicing patterns across tissues
  • Splicing efficiency and regulation analysis
  • Integration with protein-coding predictions

Access and Usage

Data Portal

The GTEx Portal provides user-friendly interfaces for:

  • Gene expression visualization across tissues
  • eQTL browsing and analysis tools
  • Single tissue and cross-tissue analyses
  • Data download capabilities

Programmatic Access

  • REST API for automated data retrieval
  • Bulk data downloads in standard formats
  • Integration with analysis pipelines
  • R/Python package compatibility

Data Sharing

  • Open access to summary-level data
  • Individual-level data available through dbGaP (phs000424)
  • Standardized data formats for interoperability
  • Regular data releases with expanded sample sizes

Applications

Functional Genomics

  • Interpretation of GWAS findings
  • Identification of target genes for disease variants
  • Understanding of regulatory mechanisms
  • Prioritization of therapeutic targets

Comparative Biology

  • Cross-tissue expression comparisons
  • Evolutionary conservation of expression patterns
  • Tissue-specific regulatory networks
  • Development and aging studies

Precision Medicine

  • Pharmacogenomics applications
  • Disease susceptibility prediction
  • Treatment response biomarkers
  • Population-specific analyses

Is this information incorrect or incomplete? Request an update.

Created: June 04, 2025 | Last modified: February 20, 2026