Evolutionary impact of copy number variation rates
BMC Research Notes, 2017 Objective Copy number variation is now recognized as one of the major sources of genetic variation among individuals in natural populations of any species.
Guillermo Rodrigo
doaj +1 more source
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]
, 2016 Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J. +17 more
core +1 more source
Copy number variation in familial Parkinson disease.
PLoS ONE, 2011 Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single ...
Nathan Pankratz +13 more
doaj +1 more source
Copy number variation in livestock: A mini review [PDF]
Veterinary World, 2018 Copy number variation (CNV) is a phenomenon in which sections of the genome, ranging from one kilo base pair (Kb) to several million base pairs (Mb), are repeated and the number of repeats vary between the individuals in a population.
V. Bhanuprakash +5 more
doaj +1 more source
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Nature Genetics, 2018 We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations.
Bradley P. Coe +10 more
semanticscholar +1 more source
Frequent expansion of Plasmodium vivax Duffy Binding Protein in Ethiopia and its epidemiological significance. [PDF]
, 2019 Plasmodium vivax invasion of human erythrocytes depends on the Duffy Binding Protein (PvDBP) which interacts with the Duffy antigen. PvDBP copy number has been recently shown to vary between P. vivax isolates in Sub-Saharan Africa. However, the extent of
Ford, Anthony +11 more
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Copy number variation in the bovine genome
BMC Genomics, 2010 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.
Bendixen Christian +3 more
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Adaptive genomic structural variation in the grape powdery mildew pathogen, Erysiphe necator. [PDF]
, 2014 BackgroundPowdery mildew, caused by the obligate biotrophic fungus Erysiphe necator, is an economically important disease of grapevines worldwide. Large quantities of fungicides are used for its control, accelerating the incidence of fungicide-resistance.
Amrine, Katherine CH +7 more
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A remark on copy number variation detection methods. [PDF]
PLoS ONE, 2018 Copy number variations (CNVs) are gain and loss of DNA sequence of a genome. High throughput platforms such as microarrays and next generation sequencing technologies (NGS) have been applied for genome wide copy number losses.
Shuo Li +5 more
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Copy number variation is highly correlated with differential gene expression: a pan-cancer study
BMC Medical Genetics, 2019 BackgroundCancer is a heterogeneous disease with many genetic variations. Lines of evidence have shown copy number variations (CNVs) of certain genes are involved in development and progression of many cancers through the alterations of their gene ...
Xin Shao +7 more
semanticscholar +1 more source