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Updated: Apr 19, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
Dynamic pathway analysis of genes associated with blood pressure using whole genome sequence data
Pingzhao Hu1, Andrew D Paterson2
1The Centre for Applied Genomics, The Hospital for Sick Children, 686 Bay Street, Toronto, ON, M5G 0A4, Canada ; Department of Biochemistry and Medical Genetics and George and Fay Yee Centre for Healthcare Innovation, University of Manitoba,745 Bannatyne Avenue, Winnipeg, MB, R3E 0W3, Canada.
Abstract:
Groups of genes assigned to a pathway, also called a module, have similar functions. Finding such modules, and the topology of the changes of the modules over time, is a fundamental problem in understanding the mechanisms of complex diseases. Here we investigated an approach that categorized variants into rare or common and used a hierarchical model to jointly estimate the group effects of the variants in a pathway for identifying enriched pathways over time using whole genome sequencing data and blood pressure data. Our results suggest that the method can identify potentially biologically meaningful genes in modules associated with blood pressure over time.
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