Results 41 to 50 of about 968,335 (302)

Eight Y chromosome genes show copy number variations in horses [PDF]

Archives Animal Breeding, 2018
Copy number variations (CNVs), which represent a significant source of genetic diversity on the Y chromosome in mammals, have been shown to be associated with the development of many complex phenotypes, such as reproduction and male fertility.
H. Han, H. Han, X. Zhang, X. Zhao, X. Xia, C. Lei, R. Dang   +6 more
doaj   +1 more source

Assessment of copy number variations in 120 patients with Poland syndrome [PDF]

, 2016
Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies.
Aldamaria Puliti, Anwar Baban, Carlotta Maria Vaccari, Elisa Tassano, Filippo Senes, Ilaria Musante, Margherita Lerone, Maria Francesca Bedeschi, Maria Grazia Calevo, Maria Teresa Divizia, Maria Victoria Romanini, Massimo Acquaviva, Maura Valle, Michele Torre, Nunzio Catena, Roberto Ravazzolo, Simone Bossi, Stefania Gimelli   +17 more
core   +2 more sources

The variome concept: focus on CNVariome

Molecular Cytogenetics, 2019
Background Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of genetic ...
Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov   +2 more
doaj   +1 more source

Potential Value of Genomic Copy Number Variations in Schizophrenia

Frontiers in Molecular Neuroscience, 2017
Schizophrenia is a devastating neuropsychiatric disorder affecting approximately 1% of the global population, and the disease has imposed a considerable burden on families and society.
Chuanjun Zhuo, Chuanjun Zhuo, Weihong Hou, Weihong Hou, Chongguang Lin, Lirong Hu, Jie Li   +6 more
doaj   +1 more source

Web-Based Database and Viewer of East Asian Copy Number Variations [PDF]

Genomics & Informatics, 2012
We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in
Ji-Hong Kim, Hae-Jin Hu, Yeun-Jun Chung
doaj   +1 more source

Copy number variations and cognitive phenotypes in unselected populations [PDF]

, 2015
IMPORTANCE: The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as intellectual disability has been almost exclusively evaluated using clinically ascertained ...
Alavere, H., Beckmann, J.S., Cole, B., Cusi, D., Ferreira, A.M., Gaunt, T.R., Guyatt, A.L., Iacono, W.G., Jacquemont, S., Kolk, A., Kutalik, Z., Leitsalu, L., Macé, A., Maillard, A.M., McGue, M., Metspalu, A., Mihailov, E., Mägi, R., Männik, K., Nõukas, M., Pankratz, N., Reigo, A., Reymond, A., Salvi, E., Shihab, H.A., Teumer, A., Timpson, N.   +26 more
core   +1 more source

dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations

BMC Genomics, 2023
Background Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize the relationship between these variants and
Kangqi Lv, Dayang Chen, Dan Xiong, Huamei Tang, Tong Ou, Lijuan Kan, Xiuming Zhang   +6 more
doaj   +1 more source

X-CNV: genome-wide prediction of the pathogenicity of copy number variations

Genome Medicine, 2021
Background Gene copy number variations (CNVs) contribute to genetic diversity and disease prevalence across populations. Substantial efforts have been made to decipher the relationship between CNVs and pathogenesis but with limited success.
Li Zhang, Jingru Shi, Jian Ouyang, Riquan Zhang, Yiran Tao, Dongsheng Yuan, Chengkai Lv, Ruiyuan Wang, Baitang Ning, Ruth Roberts, Weida Tong, Zhichao Liu, Tieliu Shi   +12 more
doaj   +1 more source

Adaptive genomic structural variation in the grape powdery mildew pathogen, Erysiphe necator. [PDF]

, 2014
BackgroundPowdery mildew, caused by the obligate biotrophic fungus Erysiphe necator, is an economically important disease of grapevines worldwide. Large quantities of fungicides are used for its control, accelerating the incidence of fungicide-resistance.
Amrine, Katherine CH, Cantu, Dario, Gubler, W Douglas, Jones, Laura, McGuire, Brianna, Morales-Cruz, Abraham, Riaz, Summaira, Walker, M Andrew   +7 more
core   +2 more sources

Human subtelomeric copy number variations [PDF]

Cytogenetic and Genome Research, 2008
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
openaire   +2 more sources