Results 41 to 50 of about 1,217,732 (304)
Rare copy number variation in cerebral palsy [PDF]
, 2013 As per publisher: published online 22 May 2013Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known.
A MacLennan +59 more
core +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 Detection Using Total Variation [PDF]
Proceedings of the 10th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, 2019 Next-generation sequencing (NGS) technologies offer new opportunities for precise and accurate identification of genomic aberrations, including copy number variations (CNVs). For high-throughput NGS data, using depth of coverage has become a major approach to identify CNVs, especially for whole exome sequencing (WES) data.
Fatima, Zare, Sheida, Nabavi
openaire +2 more sources
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
doaj +1 more source
Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy
Frontiers in Genetics, 2021 The purpose of this study was to explore the copy number variations (CNVs) associated with miscarriage during early and middle pregnancy and provide useful genetic guidance for pregnancy and prenatal diagnosis.
Heming Wu +9 more
doaj +1 more source
Copy number variation genotyping using family information [PDF]
, 2013 BACKGROUND: In recent years there has been a growing interest in the role of copy number variations (CNV) in genetic diseases. Though there has been rapid development of technologies and statistical methods devoted to detection in CNVs from array data ...
Angela Rogers +6 more
core +2 more sources
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
doaj +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
Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]
, 2017 Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne +5 more
core +1 more source