An interaction-based model for neuropsychiatric features of copy-number variants

BioRxiv : the Preprint Server for Biology
Matthew Jensen, Santhosh Girirajan


Variably expressive copy-number variants (CNVs) are characterized by extensive phenotypic heterogeneity of neuropsychiatric phenotypes. Approaches to identify single causative genes for these phenotypes within each CNV have not been successful. Here, we posit using multiple lines of evidence, including pathogenicity metrics, functional assays of model organisms, and gene expression data, that multiple genes within each CNV region are likely responsible for the observed phenotypes. We propose that candidate genes within each region likely interact with each other through shared pathways to modulate the individual gene phenotypes, emphasizing the genetic complexity of CNV-associated neuropsychiatric features.

Related Concepts

Gene Expression
Choroidal Neovascularization
Protein Expression
Candidate Disease Gene
Copy Number Polymorphism
DNA Copy Number Variations

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