gtex-database

What problem does it solve?

This Skill allows researchers to query the Genotype-Tissue Expression (GTEx) portal to understand how genetic variations influence gene expression across different human tissues, crucial for interpreting disease-associated genetic loci.

Core Features & Use Cases

• Tissue-Specific Gene Expression: Retrieve normalized gene expression levels (TPM) for any gene across 54 human tissues.
• eQTL and sQTL Lookup: Identify genetic variants (eQTLs) and splicing variants (sQTLs) that significantly affect gene expression or splicing in specific tissues.
• GWAS Variant Interpretation: Link non-coding genetic variants identified in Genome-Wide Association Studies (GWAS) to potential target genes and regulatory mechanisms.
• Use Case: Determine if a GWAS variant associated with a particular disease is linked to altered expression of a nearby gene in relevant tissues like brain or liver.

Quick Start

Use the gtex-database skill to find the median expression of the gene APOE across all tissues.