alterlab-gtex

To map genetic variants to tissue-specific gene regulation, you query GTEx v10 eQTL and expression data. This process identifies affected genes and tissues, returning gene symbols, tissue IDs, p-values, and effect sizes to prioritize candidate genes for functional follow-up.

eQTLs link genetic variants to changes in overall gene expression levels, while sQTLs affect mRNA splicing patterns. Analyzing both across GTEx v10 tissues helps determine tissue specificity and uncover distinct regulatory mechanisms for disease.

You retrieve significant eQTLs and median TPM expression by querying GTEx REST API endpoints for association and expression data. The process handles pagination automatically to return tissue-specific regulatory effects and expression metrics.

Yes, you can prioritize tissues by applying GTEx v10 eQTL and sQTL data across 54 tissue types. This identifies which tissues show significant regulatory effects for your variant, helping pinpoint the most relevant biological contexts for disease mechanisms.

Yes, querying GTEx association and expression endpoints across multiple tissues requires handling pagination to retrieve complete datasets. This process manages pagination internally to ensure all significant eQTLs, sQTLs, and gene symbols are returned accurately.

A key limitation is that GTEx data covers 54 specific tissue types, so regulatory effects in unprofiled tissues remain undetected. Additionally, significant eQTLs indicate statistical correlation rather than direct causation, requiring further functional follow-up to confirm disease mechanisms.