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Updated: Feb 13, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
The importance of cohort studies in the post-GWAS era
Cisca Wijmenga1,2, Alexandra Zhernakova3
1Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. c.wijmenga@umcg.nl.
Abstract:
The past decade has seen enormous success of wide-scale genetic studies in identifying genetic variants that modify individuals' predisposition to common diseases. However, the interpretation and functional understanding of these variants lag far behind. In this Perspective, we discuss opportunities for using large-scale cohort studies to investigate the downstream molecular effects of SNPs at different 'omics' data levels. We point to the pivotal role of population cohorts in establishing causality and advancing drug discovery. In particular, we focus on the breadth-versus-depth concepts of population studies, on data harmonization, and on the challenges, ethical aspects and future perspectives of cohort studies.
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