ArticleGenome research2015
The clustering of functionally related genes contributes to CNV-mediated disease.
Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.European journal of human genetics : EJHG · 2018Pooled it
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- Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.Genes & genomics · 2023Article
- Regulatory mechanisms ensuring coordinated expression of functionally related genes.Trends in genetics : TIG · 2022Review
- Convergent evolution of a genomic rearrangement may explain cancer resistance in hystrico- and sciuromorpha rodents.NPJ aging and mechanisms of disease · 2021Article
- CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.Nucleic acids research · 2021Article
- Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.PLoS genetics · 2021Article
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- Dosage sensitivity intolerance of VIPR2 microduplication is disease causative to manifest schizophrenia-like phenotypes in a novel BAC transgenic mouse model.Molecular psychiatry · 2019Article
- The variome concept: focus on CNVariome.Molecular cytogenetics · 2019Article
- An interaction-based model for neuropsychiatric features of copy-number variants.PLoS genetics · 2019Article
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- A pan-cancer atlas of cancer hallmark-associated candidate driver lncRNAs.Molecular oncology · 2018Article
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- Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.Nature communications · 2018Article
- Genomic Identification and Functional Characterization of Essential Genes inG3 (Bethesda, Md.) · 2018Article
- Diverse type 2 diabetes genetic risk factors functionally converge in a phenotype-focused gene network.PLoS computational biology · 2017Article
- Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.Human mutation · 2017Article
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8 authors.
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Abstract
Clusters of functionally related genes can be disrupted by a single copy number variant (CNV). We demonstrate that the simultaneous disruption of multiple functionally related genes is a frequent and significant characteristic of de novo CNVs in patients with developmental disorders (P = 1 × 10(-3)). Using three different functional networks, we identified unexpectedly large numbers of functionally related genes within de novo CNVs from two large independent cohorts of individuals with developmental disorders. The presence of multiple functionally related genes was a significant predictor of a CNV's pathogenicity when compared to CNVs from apparently healthy individuals and a better predictor than the presence of known disease or haploinsufficient genes for larger CNVs. The functionally related genes found in the de novo CNVs belonged to 70% of all clusters of functionally related genes found across the genome. De novo CNVs were more likely to affect functional clusters and affect them to a greater extent than benign CNVs (P = 6 × 10(-4)). Furthermore, such clusters of functionally related genes are phenotypically informative: Different patients possessing CNVs that affect the same cluster of functionally related genes exhibit more similar phenotypes than expected (P < 0.05). The spanning of multiple functionally similar genes by single CNVs contributes substantially to how these variants exert their pathogenic effects.
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