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

Matthew Jensen, Santhosh Girirajan

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish (US)
Article numbere1007879
JournalPLoS genetics
Volume15
Issue number1
DOIs
StatePublished - Jan 1 2019

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phenotype
Phenotype
gene
Genes
genes
pathogenicity
gene expression
Virulence
assay
Gene Expression
organisms
assays

All Science Journal Classification (ASJC) codes

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Cancer Research

Cite this

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An interaction-based model for neuropsychiatric features of copy-number variants. / Jensen, Matthew; Girirajan, Santhosh.

In: PLoS genetics, Vol. 15, No. 1, e1007879, 01.01.2019.

Research output: Contribution to journalArticle

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