Results 11 to 20 of about 253,893 (144)

Copy number variation in the horse genome. [PDF]

PLoS Genetics, 2014
We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse.
Sharmila Ghosh, Zhipeng Qu, Pranab J Das, Erica Fang, Rytis Juras, E Gus Cothran, Sue McDonell, Daniel G Kenney, Teri L Lear, David L Adelson, Bhanu P Chowdhary, Terje Raudsepp   +11 more
doaj   +1 more source

Copy number variation in African Americans

BMC Genetics, 2009
Background Copy number variants (CNVs) have been identified in several studies to be associated with complex diseases. It is important, therefore, to understand the distribution of CNVs within and among populations.
Caillier Stacy J, Nelson Matthew R, McElroy Joseph P, Oksenberg Jorge R   +3 more
doaj   +1 more source

Natural variation in the consequences of gene overexpression and its implications for evolutionary trajectories

eLife, 2021
Copy number variation through gene or chromosome amplification provides a route for rapid phenotypic variation and supports the long-term evolution of gene functions.
DeElegant Robinson, Michael Place, James Hose, Adam Jochem, Audrey P Gasch   +4 more
doaj   +1 more source

Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes. [PDF]

Nat Genet
Ma W, Chaisson MJP.
europepmc   +3 more sources

Copy number variation across European populations.

PLoS ONE, 2011
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen, Caroline Hayward, Alan F Wright, Andrew A Hicks, Veronique Vitart, Sara Knott, Sarah H Wild, Peter P Pramstaller, James F Wilson, Igor Rudan, David J Porteous   +10 more
doaj   +1 more source

Genetic association studies of copy-number variation: should assignment of copy number states precede testing? [PDF]

PLoS ONE, 2012
Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number ...
Patrick Breheny, Prabhakar Chalise, Anthony Batzler, Liewei Wang, Brooke L Fridley   +4 more
doaj   +1 more source

Copy Number Variation Analysis of Euploid Pregnancy Loss

Frontiers in Genetics, 2022
Objectives: Copy number variant (CNV) is believed to be the potential genetic cause of pregnancy loss. However, CNVs less than 3 Mb in euploid products of conceptions (POCs) remain largely unexplored. The aim of this study was to investigate the features
Chongjuan Gu, Huan Gao, Kuanrong Li, Xinyu Dai, Zhao Yang, Ru Li, Canliang Wen, Yaojuan He   +7 more
doaj   +1 more source

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, Holm Lars-Erik, Thomsen Bo, Fadista João   +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, Heming Wu, Qingyan Huang, Qingyan Huang, Xia Zhang, Xia Zhang, Zhikang Yu, Zhikang Yu, Zhixiong Zhong, Zhixiong Zhong   +9 more
doaj   +1 more source

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, Xialiang Dou, Ruiqi Gao, Xinzhou Ge, Minping Qian, Lin Wan   +5 more
doaj   +1 more source