Cell
Volume 169, Issue 7, 15 June 2017, Pages 1177-1186
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Perspective
An Expanded View of Complex Traits: From Polygenic to Omnigenic

https://doi.org/10.1016/j.cell.2017.05.038Get rights and content
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A central goal of genetics is to understand the links between genetic variation and disease. Intuitively, one might expect disease-causing variants to cluster into key pathways that drive disease etiology. But for complex traits, association signals tend to be spread across most of the genome—including near many genes without an obvious connection to disease. We propose that gene regulatory networks are sufficiently interconnected such that all genes expressed in disease-relevant cells are liable to affect the functions of core disease-related genes and that most heritability can be explained by effects on genes outside core pathways. We refer to this hypothesis as an “omnigenic” model.

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