Protocol for using GRPath to identify putative gene regulation paths in complex human diseases

Summary: Unfolding the “black-box” associations between genotype and phenotype is essential for understanding the molecular mechanisms of complex human diseases. Here, we describe the use of GRPath to uncover putative causal paths (pcPaths) from genetic variants to disease phenotypes. GRPath takes multiple omics data and summary statistics as input and identifies pcPaths that link the putative causal region (pcRegion), putative causal variant (pcVariant), putative causal gene (pcGene), noteworthy cell type, and disease phenotype.For complete details on the use and execution of this protocol, please refer to Xi et al. (2022).1 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.