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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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Case report: Fetal cervical immature teratoma and copy number variations
Frontiers in Oncology, 2022 Fetal cervical teratoma is a rare congenital neck tumor. Here, we report a case of a fetus with an anterior solid neck tumor that was confirmed to have an immature teratoma by histology. A duplication was found at chromosome 14q24.1-q24.3 of the fetus in
Dianjie Li +5 more
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WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing. [PDF]
, 2013 MotivationCopy number variations (CNVs) are a major source of genomic variability and are especially significant in cancer. Until recently microarray technologies have been used to characterize CNVs in genomes.
Ali, Johar +11 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 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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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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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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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]
, 2019 Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J +21 more
core +2 more sources