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Updated: May 5, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
Network analysis of GWAS data
Mark D M Leiserson1, Jonathan V Eldridge, Sohini Ramachandran
1Department of Computer Science, Brown University, Providence, RI 02912, United States; Center for Computational Molecular Biology, Brown University, Providence, RI 02912, United States.
Abstract:
Genome-wide association studies (GWAS) identify genetic variants that distinguish a control population from a population with a specific trait. Two challenges in GWAS are: (1) identification of the causal variant within a longer haplotype that is associated with the trait; (2) identification of causal variants for polygenic traits that are caused by variants in multiple genes within a pathway. We review recent methods that use information in protein-protein and protein-DNA interaction networks to address these two challenges.
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