eQTL Catalogue

eQTL Catalogue compiles uniformly processed summary statistics of human expression quantitative trait loci (eQTLs) from 21 publicly available studies to enable comparative and integrative analysis of genetic effects on transcriptional features.

Key Features:

• Uniform Processing: QTLs are quality controlled and recomputed uniformly across included studies to enhance comparability.
• Harmonization of Variant and Feature Representations: Inconsistencies in variant testing, allele codings, and transcriptional feature quantifications are reconciled across datasets.
• Reproducibility of Effect Sizes: eQTL effect sizes show high reproducibility for matching cell types and tissues, supporting integrative analyses.

Scientific Applications:

• Fine Mapping and Colocalisation: Supports downstream fine mapping and colocalisation analyses to identify target genes underlying GWAS signals.
• Cell-Type-Specific Insights: Analysis of purified cell types enables detection of cell-type-specific eQTLs and novel disease colocalisations not apparent in bulk tissues.

Methodology:

Uniform quality control and recomputation of QTLs across 21 publicly available eQTL studies, with harmonization of variant testing, allele codings, and transcriptional feature quantifications to allow consistent comparisons and integrative analyses.