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Design and interpretation of eQTL-GWAS colocalisation studies: lessons from a large-scale evaluation
2025-11-23
genetic and genomic medicine
Title + abstract only
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Colocalisation analysis is extensively applied across diverse GWAS and molecular QTL datasets to identify candidate causal genes. We systematically characterised large-scale colocalisation results across eQTL studies varying in cellular granularity and sample size, with the goal of providing design and interpretation recommendations. We found 34-50% of GWAS hits colocalised, and were more likely to colocalise if they were located nearer genes and had a more common lead variant. We also found ove...
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