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The contribution of epistasis to human disease remains unclear. However, several studies have now identified epistatic interactions between common variants that increase the risk of a neuropsychiatric disorder, while there is growing evidence that genetic interactions contribute to the pathogenicity of rare, multigenic copy-number variants (CNVs) that have been observed in patients. This review discusses the current evidence for epistatic events and genetic interactions in neuropsychiatric disorders, how paradigm shifts in the phenotypic classification of patients would empower the search for epistatic effects, and how network and cellular models might be employed to further elucidate relevant epistatic interactions.

Original publication




Journal article


Trends Genet

Publication Date





256 - 265


autism, bipolar disorder, epistasis, interactions, neuropsychiatric disorders, schizophrenia, Autistic Disorder, Bipolar Disorder, DNA Copy Number Variations, Epistasis, Genetic, Genotype, Humans, Phenotype, Quantitative Trait Loci, Schizophrenia