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• W2027508727 endingPage "e1005012" @default.
• W2027508727 startingPage "e1005012" @default.
• W2027508727 abstract "Readily-accessible and standardised capture of genotypic variation has revolutionised our understanding of the genetic contribution to disease. Unfortunately, the corresponding systematic capture of patient phenotypic variation needed to fully interpret the impact of genetic variation has lagged far behind. Exploiting deep and systematic phenotyping of a cohort of 197 patients presenting with heterogeneous developmental disorders and whose genomes harbour de novo CNVs, we systematically applied a range of commonly-used functional genomics approaches to identify the underlying molecular perturbations and their phenotypic impact. Grouping patients into 408 non-exclusive patient-phenotype groups, we identified a functional association amongst the genes disrupted in 209 (51%) groups. We find evidence for a significant number of molecular interactions amongst the association-contributing genes, including a single highly-interconnected network disrupted in 20% of patients with intellectual disability, and show using microcephaly how these molecular networks can be used as baits to identify additional members whose genes are variant in other patients with the same phenotype. Exploiting the systematic phenotyping of this cohort, we observe phenotypic concordance amongst patients whose variant genes contribute to the same functional association but note that (i) this relationship shows significant variation across the different approaches used to infer a commonly perturbed molecular pathway, and (ii) that the phenotypic similarities detected amongst patients who share the same inferred pathway perturbation result from these patients sharing many distinct phenotypes, rather than sharing a more specific phenotype, inferring that these pathways are best characterized by their pleiotropic effects." @default.
• W2027508727 created "2016-06-24" @default.
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• W2027508727 date "2015-03-17" @default.
• W2027508727 modified "2023-09-27" @default.
• W2027508727 title "Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders" @default.
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• W2027508727 cites W1976077443 @default.
• W2027508727 cites W1980050623 @default.
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• W2027508727 cites W1983797382 @default.
• W2027508727 cites W1994540457 @default.
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• W2027508727 cites W1996383859 @default.
• W2027508727 cites W2000660517 @default.
• W2027508727 cites W2003548070 @default.
• W2027508727 cites W2009405916 @default.
• W2027508727 cites W2010798628 @default.
• W2027508727 cites W2018838463 @default.
• W2027508727 cites W2020725656 @default.
• W2027508727 cites W2025349319 @default.
• W2027508727 cites W2030710966 @default.
• W2027508727 cites W2035079756 @default.
• W2027508727 cites W2042298663 @default.
• W2027508727 cites W2057647954 @default.
• W2027508727 cites W2060797027 @default.
• W2027508727 cites W2064224560 @default.
• W2027508727 cites W2070204715 @default.
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• W2027508727 cites W2073078550 @default.
• W2027508727 cites W2074763033 @default.
• W2027508727 cites W2075725530 @default.
• W2027508727 cites W2078792788 @default.
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• W2027508727 cites W2106077379 @default.
• W2027508727 cites W2108110181 @default.
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• W2027508727 doi "https://doi.org/10.1371/journal.pgen.1005012" @default.
• W2027508727 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4362763" @default.
• W2027508727 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25781962" @default.
• W2027508727 hasPublicationYear "2015" @default.
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