We review efforts to map copy number variants and discuss present and future prospects for assessment of their relation to human health and disease.Louise V Wain and John AL Armour and Martin D TobinThe LancetWain LV, Armour JA, Tobin MD. Genomic copy number variation, human health, and ...
Some copy number variants explain rare, previously uncharacterised disorders, and they are now expected to explain some of the genetic contribution to common diseases. We review efforts to map copy number variants and discuss present and future prospects for assessment of their relation to human ...
Tian M, Wang Y, Gu X, Feng C, Fang S, Hu X, Li N. Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization. BMC Genomics. 2013; 14 (1):262. doi: 10.1186/1471-2164-14-262. [ Cross Ref ]...
It is expected that the variants identified in these studies do not overlap, suggesting a vast amount of CNVs exist in cattle population and saturation for this type of variation has not yet been approached. It is likely that many thousands of more common structural variants may still remain un...
A surprising recent finding has been the extent to which genomic copy number variants (CNVs) also exist in the normal population [7–13]. Such variation may represent an important class of mutations that predispose to disease. Conventional cytogenetic studies such as karyotyping are routinely used ...
However, little is known about the effect of copy number variants (CNVs) on lung function, although CNVs represent a significant proportion of human genetic polymorphism. To assess the effect of CNVs on lung function quantitative traits, we measured copy number at 2788 previously characterised, ...
et al. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics 8, 443 (2007). Article CAS Google Scholar Lugtenberg, D., Kleefstra, T., Oudakker, A. R., Nillesen, W. M., Yntema, H. G., Tzschach, A....
Comparative genomic hybridization (CGH) is applied to identify the copy number variants related to ploidy in the DNA samples and it involves the comparison of the total genomic content of healthy individuals with total genomic content of the patient. The genomic content is fluorescently labeled and ...
Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations. Here, we describe updates and new features,...
Copy number variants (CNVs) detected by array comparative genomic hybridization (aCGH) in 8 Hirschsprung disease patients.Qian JiangYenYi HoLi HaoCourtney Nichols BerriosAravinda Chakravarti