What problem does it solve?
This Skill provides access to the Genotype-Tissue Expression (GTEx) database, enabling users to query tissue-specific gene expression levels, expression quantitative trait loci (eQTLs), and splicing quantitative trait loci (sQTLs). This is crucial for understanding the genetic regulation of gene expression across different human tissues.
Core Features & Use Cases
- Tissue-Specific Gene Expression: Retrieve median gene expression (TPM) for a given gene across 54 human tissues.
- eQTL and sQTL Lookup: Find genetic variants associated with changes in gene expression or splicing in specific tissues.
- GWAS Variant Interpretation: Link non-coding genetic variants from Genome-Wide Association Studies (GWAS) to potential target genes and their regulatory mechanisms in relevant tissues.
- Use Case: A researcher investigating a GWAS hit in brain tissue can use this Skill to find eQTLs for nearby genes in brain tissues, helping to identify the causal gene and understand its regulation.
Quick Start
Use the gtex-database skill to find the median expression of the gene APOE across all tissues.