Results 41 to 50 of about 12,100,252 (298)
Copy Number Variation and Schizophrenia [PDF]
Schizophrenia Bulletin, 2009 Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
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The variome concept: focus on CNVariome
Molecular Cytogenetics, 2019 Background Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of genetic ...
Ivan Y. Iourov +2 more
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Potential Value of Genomic Copy Number Variations in Schizophrenia
Frontiers in Molecular Neuroscience, 2017 Schizophrenia is a devastating neuropsychiatric disorder affecting approximately 1% of the global population, and the disease has imposed a considerable burden on families and society.
Chuanjun Zhuo +6 more
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Identification of Copy Number Variations in Xiang and Kele Pigs. [PDF]
PLoS ONE, 2016 Xiang and Kele pigs are two well-known local Chinese pig breeds that possess rich genetic resources and have enormous economic and scientific value. We performed a comprehensive genomic analysis of the copy number variations (CNVs) in these breeds.
Jian Xie +6 more
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Including copy number variation in association studies to predict genotypic values [PDF]
, 2010 The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L. +2 more
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The sociability spectrum: evidence from reciprocal genetic copy number variations
Molecular Autism, 2020 Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species ...
Alejandro López-Tobón +2 more
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Web-Based Database and Viewer of East Asian Copy Number Variations [PDF]
Genomics & Informatics, 2012 We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in
Ji-Hong Kim, Hae-Jin Hu, Yeun-Jun Chung
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Copy number variation in the bovine genome [PDF]
BMC Genomics, 2010 Abstract Background Copy number variations (CNVs), which represent a significant source of genetic diversity in mammals, have been shown to be associated with phenotypes of clinical relevance and to be causative of disease. Notwithstanding, little is known about the extent to which CNV contributes to genetic variation
Fadista, João +3 more
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dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations
BMC Genomics, 2023 Background Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize the relationship between these variants and
Kangqi Lv +6 more
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Copy number variation goes clinical [PDF]
Genome Biology, 2009 A report of the First Golden Helix Symposium 'Copy Number Variation (CNV) and Genomic Alterations in Health and Disease', Athens, Greece, 28-29 November 2008.
Le Caignec, Cédric, Redon, Richard
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