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Molecular Genetics & Genomic Medicine, 2023 Background Several copy number variations (CNVs) are associated with increased risk for neurodevelopmental and psychiatric disorders. The CNV 15q11.2 (BP1‐BP2) deletion has been associated with learning difficulties, attention deficit hyperactivity ...
Lina Jonsson +6 more
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Copy Number Variation Disorders [PDF]
Current Genetic Medicine Reports, 2017 Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively ...
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Copy Number Variation in Domestication [PDF]
Trends in Plant Science, 2019 Domesticated plants have long served as excellent models for studying evolution. Many genes and mutations underlying important domestication traits have been identified, and most causal mutations appear to be SNPs. Copy number variation (CNV) is an important source of genetic variation that has been largely neglected in studies of domestication ...
Zoe N, Lye, Michael D, Purugganan
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Copy number variations (CNVs) identified in Korean individuals
BMC Genomics, 2008 Background Copy number variations (CNVs) are deletions, insertions, duplications, and more complex variations ranging from 1 kb to sub-microscopic sizes.
Kim Yong +9 more
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Copy number variations and cancer [PDF]
Genome Medicine, 2009 DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in ...
Shlien, Adam, Malkin, David
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Copy number variation and neuropsychiatric illness [PDF]
Current Opinion in Genetics & Development, 2021 Copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression. These CNVs are individually rare (
Rees, Elliott, Kirov, George
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Genome-wide identification of copy number variations in Chinese Holstein. [PDF]
PLoS ONE, 2012 Recent studies of mammalian genomes have uncovered the vast extent of copy number variations (CNVs) that contribute to phenotypic diversity. Compared to SNP, a CNV can cover a wider chromosome region, which may potentially incur substantial sequence ...
Li Jiang +5 more
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E2F1 germline copy number variations and melanoma susceptibility
Journal of Translational Medicine, 2019 Background Melanoma is an aggressive type of skin cancer whose aetiology remains elusive as both environmental and genetic factors can contribute to its development.
Maria Santa Rocca +7 more
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Copy Number Variation Detection Using Total Variation [PDF]
Proceedings of the 10th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, 2019 Next-generation sequencing (NGS) technologies offer new opportunities for precise and accurate identification of genomic aberrations, including copy number variations (CNVs). For high-throughput NGS data, using depth of coverage has become a major approach to identify CNVs, especially for whole exome sequencing (WES) data.
Fatima, Zare, Sheida, Nabavi
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Copy number variations in female infertility in China
Balkan Journal of Medical Genetics, 2019 Copy number variation (CNV) is a main cause of male infertility, yet its influence still remains elusive in that of females. To investigate the correlation between CNV and female infertility, we applied whole-genome CNV analyses by next generation ...
Huang W +7 more
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