[PMID:27866706] [American Journal of Human Genetics]

Colocalization of GWAS and eQTL Signals Detects Target Genes

“Identifying whether or not the same variant is causal in both GWASs and expression quantitative trail locus (eQTL) studies is challenging because of the uncertainty induced by linkage disequilibrium and the fact that some loci harbor multiple causal variants. However, current methods that address this problem assume that each locus contains a single causal variant.” “PrediXscan and TWAS, which impute gene expression and then associate the imputed expression with the trait, are examples of such methods. However, these methods do not provide a basis for determining colocalization of GWAS causal variants and eQTL causal variants.”


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