نتایج جستجو برای: copy number variation

تعداد نتایج: 1448919  

Journal: :Human molecular genetics 2007
Dalila Pinto Christian Marshall Lars Feuk Stephen W Scherer

Copy-number variation (CNV) is the most prevalent type of structural variation in the human genome, and contributes significantly to genetic heterogeneity. It has already been recognized that some CNVs can contribute to human phenotype, including rare genomic disorders and Mendelian diseases. Other CNVs are now amenable to genome-wide association studies so that their influence on human phenoty...

2014
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 Gregory S. Barsh

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. Probes on the array represented 18,763 autosomal and X-linked genes, and intergenic, sub-telomeric and chrY sequences. We identified 258 CNV regions (CNVRs) across all autosomes, chrX and chrUn, but not in ...

Journal: :Human molecular genetics 2009
Charlotte N Henrichsen Evelyne Chaignat Alexandre Reymond

Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has been put into the identification and mapping of regions that vary in copy number among seemingly normal individuals in humans and a number of model organisms, using bioinformatics or hybridization-based methods. These...

2013
Shi-Heng Wang Wei J. Chen Yu-Chin Tsai Yung-Hsiang Huang Hai-Gwo Hwu Chuhsing K. Hsiao

The copy number variation (CNV) is a type of genetic variation in the genome. It is measured based on signal intensity measures and can be assessed repeatedly to reduce the uncertainty in PCR-based typing. Studies have shown that CNVs may lead to phenotypic variation and modification of disease expression. Various challenges exist, however, in the exploration of CNV-disease association. Here we...

Journal: :پژوهش های علوم دامی ایران 0
مریم نصرتی مجتبی طهمورث پور

introduction recently, genomic research in livestock is focused on genomic variation and its effect on phenotypic performance in economic traits. copy number variation (cnv) is one of these variations in genome including insertion, deletion and duplication of 1 kb to 1 mb segment with more than 90% similarity. cnvs can change gene structure and dosage, can regulate gene expression and function ...

Journal: :American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008
Benjamin M Neale Shaun Purcell

Genome-wide association aims to comprehensively survey genetic variation for the purposes of disease and trait mapping. We provide a brief history of the development of genetic technology necessary to realize genome-wide association. From there we identify and review the publicly available resources for conducting such work including the molecular technologies, genomic databases, and analytic t...

Journal: :The annals of applied statistics 2012
Yue S Niu Heping Zhang

DNA Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation that likely influences phenotypic differences. Many statistical and computational methods have been proposed and applied to detect CNVs based on data that generated by genome analysis platforms. However, most algorithms are computationally intensive with complexity at least O(n2), where n ...

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