CNVs: Harbinger of a Rare Variant Revolution in Psychiatric Genetics
By Dheeraj Malhotra, Jonathan Sebat. Cell, 2012
880 citations recorded by the source corpus.
The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry. Genome-wide studies of copy number variation (CNV) have given rise to a new understanding of disease etiology, bringing rare variants to the forefront. A proportion of risk for schizophrenia, bipolar disorder and Autism can be explained by rare mutations. Such alleles arise by de novo mutation in the individual or in recent ancestry. Alleles can have specific effects on behavioral and neuroanatomical traits; however expressivity is variable, particularly for neuropsychiatric phenotypes. Knowledge from CNV studies reflects the nature of rare alleles in general and will serve as a guide as we move forward into a new era of whole genome sequencing.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/944b9c850aff13b1048de3e2280115eba5b30415
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Citations in the corpus
- Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism (2013, neutral): “Moreover, identical mutations in the same gene can lead to widely disparate psychiatric and neurological syndromes (Malhotra and Sebat, 2012).”
- Whole Genome Sequencing in Autism Identifies Hotspots for De Novo Germline Mutation (2012, neutral): “…mutation can vary between 10 4 and 10 6 (Lupski, 2007), and there are numerous examples of hot spots for structural mutation where recurrent mutations are mediated by nonallelic homologous recombination (NAHR) between tandem segmental duplications (Lupski, 1998; Malhotra and Sebat, 2012).”
- Disentangling the heterogeneity of autism spectrum disorder through genetic findings (2014, neutral): “10 –20% of individuals with ASD have de novo mutations that are identifiable using current genetic testing; this high yield means that CMA and exome sequencing are appropriate clini cal tests for ASD.”
- Psychiatric Genomics: An Update and an Agenda (2017, background): “Some authors expressedprofoundhopethatthemultiplerarevariantmodel was broadly explanatory (22 – 24).”
- Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2016, neutral): “These results also provide a further demonstration that CNV risk factors in schizophrenia overlap with loci that contribute to pediatric developmental disorders 1, 25 .”