Epistasis refers to changes in the effect on phenotype of a unit of genetic information, such as a single nucleotide polymorphism or a gene, dependent on the context of other genetic units. Such interactions are both biologically plausible and good candidates to explain observations which are not fully explained by an additive heritability model. However, the search for epistasis has so far largely failed to recover this missing heritability. We identify key challenges and propose that future works need to leverage idealized systems, known biology and even previously identified epistatic interactions, in order to guide the search for new interactions.

中文翻译：

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寻找上位性的考虑因素


上位性是指遗传信息单位对表型影响的变化，例如单个核苷酸多态性或基因，取决于其他遗传单位的背景。这种相互作用在生物学上都是合理的，并且是解释加性遗传力模型无法完全解释的观察结果的良好候选者。然而，到目前为止，对上位性的研究在很大程度上未能恢复这种缺失的遗传性。我们确定了关键挑战，并提出未来的工作需要利用理想化的系统、已知的生物学甚至以前确定的上位相互作用，以指导寻找新的相互作用。