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A Two-State Epistasis Model Reduces Missing Heritability of Complex Traits

Kerry L. Bubb, Christine Queitsch
doi: https://doi.org/10.1101/017491
Kerry L. Bubb
Department of Genome Sciences, University of Washington Seattle, Washington 98115, USA
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Christine Queitsch
Department of Genome Sciences, University of Washington Seattle, Washington 98115, USA
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ABSTRACT

Despite decade-long efforts, the genetic underpinnings of many complex traits and diseases remain largely elusive. It is increasingly recognized that a purely additive model, upon which most genome-wide association studies (GWAS) rely, is insufficient. Although thousands of significant trait-associated loci have been identified, purely additive models leave much of the inferred genetic variance unexplained. Several factors have been invoked to explain the ‘missing heritability’, including epistasis. Accounting for all possible epistatic interactions is computationally complex and requires very large samples. Here, we propose a simple two-state epistasis model, in which individuals show either high or low variant penetrance with respect to a certain trait. The use of this model increases the power to detect additive trait-associated loci. We show that this model is consistent with current GWAS results and improves fit with heritability observations based on twin studies. We suggest that accounting for variant penetrance will significantly increase our power to identify underlying additive loci.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted March 15, 2016.
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A Two-State Epistasis Model Reduces Missing Heritability of Complex Traits
Kerry L. Bubb, Christine Queitsch
bioRxiv 017491; doi: https://doi.org/10.1101/017491
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A Two-State Epistasis Model Reduces Missing Heritability of Complex Traits
Kerry L. Bubb, Christine Queitsch
bioRxiv 017491; doi: https://doi.org/10.1101/017491

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