GTEx

GTEx maps the effects of genetic variation on gene expression across multiple human tissues to reveal regulatory mechanisms underlying complex traits and disease.

Key Features:

• Comprehensive database: Provides a database linking genotypes to tissue-specific gene expression across multiple human tissues.
• Tissue bank: Maintains an extensive tissue bank spanning numerous human tissues for matched genotype and expression profiling.
• High-throughput genotyping: Uses high-throughput genotyping to determine genetic variation across donors.
• RNA sequencing: Applies RNA sequencing technologies to quantify transcriptome-wide gene expression.
• Genotype–expression datasets: Generates genotype–expression datasets enabling analysis of genotype–expression relationships across tissue types.
• Data integration: Integrates genotype and expression data with advanced bioinformatics tools to facilitate robust analyses.
• Regulatory variation focus: Enables investigation of regulatory and non-coding variants implicated by GWAS in modulating gene expression.

Scientific Applications:

• Interpret GWAS loci: Link GWAS-identified loci to tissue-specific gene expression effects to suggest regulatory mechanisms.
• Study complex disease etiology: Investigate how genetic polymorphisms affect gene expression in disease-relevant tissues to elucidate disease mechanisms.
• Identify regulatory elements and pathways: Associate variants with expression changes to identify candidate regulatory elements and pathways.
• Inform therapeutics and precision medicine: Provide insights into regulatory mechanisms that can inform targeted therapeutic strategies and personalized medicine.

Methodology:

High-throughput genotyping and RNA sequencing technologies generate genotype–expression datasets across multiple tissue types, which are integrated with advanced bioinformatics tools for analysis.