Results 151 to 160 of about 10,451,845 (193)

Whole-Genome Resequencing Analysis of Copy Number Variations Associated with Athletic Performance in Grassland-Thoroughbred. [PDF]

Animals (Basel)
Ding W, Gong W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D.   +9 more
europepmc   +1 more source

In Situ Inference of Copy Number Variations in Image-Based Spatial Transcriptomics

Jensen AEV, Crowell H, Pascual Reguant A, Ruano I, Tejpar S, Heyn H, Nilsson M, Marco Salas S.   +7 more
europepmc   +1 more source

High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches. [PDF]

Ann Lab Med
Kim Y, Lee JS, Kim B, Kim MJ, Cho SI, Chae SW, Shin HS, Lee H, Kim JY, Seong MW.   +9 more
europepmc   +1 more source

ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability. [PDF]

Cell Genom
Nomura J, Zuko A, Kishimoto K, Mutsumine H, Maegawa H, Fukatsu K, Nomura Y, Liu X, Nakai N, ES Library team, Takahashi E, Kouno T, Shin JW, Takumi T.   +13 more
europepmc   +1 more source

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders. [PDF]

Ital J Pediatr
Wu D, Chen R, Zhang J, Yan W, Chen M, Xia D, Li X, Dai Y, Chen Y, Li R.   +9 more
europepmc   +1 more source

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Copy-number variation

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
openaire   +3 more sources

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 ...
Macé A, Kutalik Z, Valsesia A
openaire   +4 more sources

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.
A J, Notini, J M, Craig, S J, White
openaire   +2 more sources

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
openaire   +3 more sources

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
openaire   +2 more sources