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• W3119334539 abstract "Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent studies started exploring a class of dnCNVs that occur post-zygotically, and are therefore present in some but not all cells of the body. Analogous to conditional mutations in animal models, the presence of risk mutations in a fraction of cells has the potential to enlighten how damaging mutations affect cell-type/cell-circuit specific pathologies leading to neuropsychiatric manifestations. Although mosaic CNVs appear to contribute to a modest fraction of risk (0.3-0.5%), expanding our insights about them with more sensitive experimental and statistical methods, has the potential to help clarify mechanisms of neuropsychiatric disease." @default.
• W3119334539 created "2021-01-18" @default.
• W3119334539 creator A5009957197 @default.
• W3119334539 creator A5051868380 @default.
• W3119334539 date "2021-06-01" @default.
• W3119334539 modified "2023-09-27" @default.
• W3119334539 title "Somatic copy number variants in neuropsychiatric disorders" @default.
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• W3119334539 doi "https://doi.org/10.1016/j.gde.2020.12.013" @default.
• W3119334539 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8205940" @default.
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• W3119334539 hasPublicationYear "2021" @default.
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