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Daetwyler, H. D. et al. Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.
There is increasing evidence supporting the role of rare variants in both monogenic and complex diseases [1] [6].
Disease-association studies, both candidate gene-based and genome-wide association studies (GWAS), have identified genetic variants that associate with both monogenic and complex diseases like lung cancer.
They have also been linked to some monogenic and complex human diseases [ 3, 4].
When examined closely, the division between monogenic and complex traits quickly breaks down.
Our findings provide an example of the overlap in genetic determinants of monogenic and complex obesity.
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Extension of these studies to provide genome-wide significance is the possible bridge between the architecture of the rare monogenic disorders and complex disease.
They found application as a diagnostic tool, screening method for monogenic disorders and complex diseases [ 32].
This notwithstanding, the action of modifier genes is one of the mechanisms responsible for reduced penetrance, and one that has increasingly become recognized as blurring the distinction between monogenic conditions and complex disease (Nadeau 2003; Badano and Katsanis 2003; Sidransky 2006).
The library will be used to seek and characterize genomic sequences controlling specific monogenic and polygenic complex traits, including modifiers of dominant and recessive mutations.
The power of the test and its constituents (FST, ΔDAF, and XP-EHH) depends on the phenotypic and genetic divergence between the candidate and reference populations, as we demonstrated with simple binary monogenic (Randhawa et al. 2014) and complex polygenic traits (this study).
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