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Nature Reviews Microbiology, 2020
This study reports that extensive copy number variations occur in the presence of azole antifungal drugs in Candida albicans, which might cause phenotypic and population-level heterogeneity observed in clinical isolates.
A. Jeremy Willsey, Montana T. Morris
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This study reports that extensive copy number variations occur in the presence of azole antifungal drugs in Candida albicans, which might cause phenotypic and population-level heterogeneity observed in clinical isolates.
A. Jeremy Willsey, Montana T. Morris
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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 ...
Macé A, Kutalik Z, Valsesia A
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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 ...
Macé A, Kutalik Z, Valsesia A
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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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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 and mosaicism
Cytogenetic and Genome Research, 2008Mosaicism 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.
A J, Notini, J M, Craig, S J, White
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Copy number variations and cancer susceptibility
Current Opinion in Oncology, 2010DNA 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, 2011Differences 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, Joshua M, Akey
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Copy number variations in chronic pancreatitis
Cytogenetic and Genome Research, 2008In 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 ...
J M, Chen +3 more
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Copy number variation in metabolic phenotypes
Cytogenetic and Genome Research, 2008Despite 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.
M, Lanktree, R A, Hegele
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Gene copy number variation in schizophrenia
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2007AbstractRecent reports have highlighted the possibility that gene copy number variations play a role in the development of complex disorders and have suggested that some variations are very common in schizophrenic patients. We have carried out a comparative genomic hybridization screen using oligonucleotide probes of 891 candidate genes to look for ...
Smitha R, Sutrala +3 more
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Bioinformatics for Copy Number Variation Data
2011Copy number variation is known to be an important component of structural variation in the human genome. Greater than 1 kb in size, these gains and losses of genetic material are known to confer risk to many human diseases, both Mendelian and complex. Therefore, the technologies used to detect copy number variation have been quickly improving in both ...
Melissa, Warden +3 more
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