Results 211 to 220 of about 790,983 (253)

Copy Number Variation

2010
Recent genetic epidemiology studies have been dominated by genome-wide association (GWA) studies using single nucleotide polymorphisms (SNPs). However, a form of structural genomic variation, termed copy number variation (CNV), is also widespread throughout the human genome, and can be highly polymorphic between individuals.
Wain, LV, Tobin, MD
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Copy Number Variation

2018
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversions and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 250 kb are strongly associated with morbid consequences ...
Armand Valsesia, Aurélien Macé, Zoltán Kutalik, Zoltán Kutalik   +3 more
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Copy number variation and mosaicism

Cytogenetic and Genome Research, 2008
Mosaicism is the presence of cells within an organism that have a different genetic composition despite deriving from a single zygote. The consequence of this depends on the number and type of cells that are affected as well as the specific DNA involved.
Jeffrey M. Craig, Amanda J. Notini, Stefan J. White   +2 more
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Copy number variations in neurodevelopmental disorders

Progress in Neurobiology, 2012
Common neurodevelopmental disorders (including autism, speech and language delay, schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is predominantly genomic, but also environmental in origin. They share a paradox, in that high heritability is matched by lowered fecundity, placing them under negative genetic selection ...
Grayton, Hannah M., Fernandes, Cathy, Rujescu, Dan, Collier, David A.   +3 more
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Gene copy number variation in schizophrenia

Schizophrenia Research, 2007
The possibility that gene copy number variations play a role in the development of complex disorders is a topic of considerable interest. Recent reports have highlighted the large number of such variations that exist and that their occurrence varies considerably between populations.
Sutrala, Smitha R., Goossens, Dirk, Williams, Nigel M., Heyrman, Lien, Adolfsson, Rolf, Norton, Nadine, Buckland, Paul R., Del-Favero, Jurgen   +7 more
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Copy number variation in metabolic phenotypes

Cytogenetic and Genome Research, 2008
Despite successes in identifying genetic contributors to common metabolic phenotypes, only part of the heritable component of these traits has thus far been explained. Copy number variation (CNV) is likely to be responsible for some of the unexplained variation.
Matthew B. Lanktree, Robert A. Hegele
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Copy number variations in chronic pancreatitis

Cytogenetic and Genome Research, 2008
In 1996, shortly after a locus for hereditary pancreatitis had been mapped to chromosome 7q35, an apparent gain-of-function missense mutation, p.R122H, in the cationic trypsinogen gene (<i>PRSS1</i>) was identified. Thereafter, the search for chronic pancreatitis-associated genetic factors has been largely focused on one form of genetic ...
C. Le Maréchal, Claude Férec, Emmanuelle Masson, Jian-Min Chen   +3 more
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Copy number variations and cancer susceptibility

Current Opinion in Oncology, 2010
DNA copy number variations (CNVs) comprise a recently discovered element of genetic variation that affects a greater cumulative fraction of the genome than single-nucleotide polymorphisms (SNPs). This review discusses current understanding of the characteristics of CNVs in the human genome and explores the emerging discoveries of both constitutional ...
Adam Shlien, David Malkin
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Copy number variation in the domestic dog

Mammalian Genome, 2011
Differences in the content and organization of DNA, collectively referred to as structural variation, have emerged as a major source of genetic and phenotypic diversity within and between species. In addition, structural variation provides an important substrate for evolutionary innovations. Here, we review recent progress in characterizing patterns of
Carlos E. Alvarez, Carlos E. Alvarez, Joshua M. Akey   +2 more
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Copy Number Variations in Tilapia Genomes

Marine Biotechnology, 2017
Discovering the nature and pattern of genome variation is fundamental in understanding phenotypic diversity among populations. Although several millions of single nucleotide polymorphisms (SNPs) have been discovered in tilapia, the genome-wide characterization of larger structural variants, such as copy number variation (CNV) regions has not been ...
Yong Zhang, Hong Lian Li, Bi Jun Li, Haoran Lin, Jun Hong Xia, Zining Meng, Gen Hua Yue   +6 more
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