Results 61 to 70 of about 790,983 (253)

The significance of copy number variations in schizophrenia [PDF]

British Journal of Psychiatry, 2014
Rees et al [1][1] seek to replicate the association with schizophrenia of copy number variants (CNVs) involving putative schizophrenia loci in a large case-control study. They conclude that 11 of the 15 previously implicated loci were strongly associated with schizophrenia.
openaire   +4 more sources

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

bioRxiv, 2019
Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing.
Erin Zampaglione, Benyam Kinde, E. Place, D. Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J. A. Mazzone, C. Finn, Dana Schlegel, J. Comander, Eric A. Pierce, K. Bujakowska   +12 more
semanticscholar   +1 more source

MONTAGE: a new tool for high-throughput detection of mosaic copy number variation

BMC Genomics, 2021
Background Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain genomic segments exists within the same individual.
Joseph T. Glessner, Xiao Chang, Yichuan Liu, Jin Li, Munir Khan, Zhi Wei, Patrick M. A. Sleiman, Hakon Hakonarson   +7 more
doaj   +1 more source

Identification of CNVs and their association with the meat traits of Hanwoo

Journal of Animal Reproduction and Biotechnology, 2023
Background: Copy number variation (CNV) can be identified using next-generation sequencing and microarray technologies, the research on the analysis of its association with meat traits in livestock breeding has significantly increased in recent years ...
Chan Mi Bang, Khaliunaa Tseveen, Gwang Hyeon Lee, Gil Jong Seo, Hong Sik Kong   +4 more
doaj   +1 more source

Copy Number Variation in Tourette Syndrome [PDF]

Neuron, 2017
In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
Stephen W. Scherer, Stephen W. Scherer, Anne S. Bassett   +2 more
openaire   +3 more sources

Total copy number variation as a prognostic factor in adult astrocytoma subtypes

Acta Neuropathologica Communications, 2019
Since the discovery that IDH1/2 mutations confer a significantly better prognosis in astrocytomas, much work has been done to identify other molecular signatures to help further stratify lower-grade astrocytomas and glioblastomas, with the goal of ...
K. Mirchia, A. Sathe, Jamie M. Walker, Yelena Fudym, Kristyn Galbraith, M. Viapiano, R. J. Corona, M. Snuderl, Chao Xing, K. Hatanpaa, T. Richardson   +10 more
semanticscholar   +1 more source

RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION

İstanbul Tıp Fakültesi Dergisi, 2021
Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir, Hakan Gürkan, Damla Eker, Sinem Yalçıntepe, Emine İkbal Atlı, Engin Atlı   +5 more
doaj   +1 more source

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Nature Genetics, 2018
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls.
M. Verbitsky, R. Westland, Alejandra Perez, K. Kiryluk, Qingxue Liu, Priya Krithivasan, A. Mitrotti, D. Fasel, Ekaterina Batourina, M. Sampson, M. Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina Capone, A. Vivante, S. Shril, B. H. Kil, M. Marasà, Jun Y. Zhang, Y. Na, T. Lim, D. Ahram, P. Weng, E. Heinzen, A. Carrea, G. Piaggio, L. Gesualdo, Valeria Manca, Giuseppe Masnata, M. Gigante, D. Cusi, C. Izzi, F. Scolari, J. V. van Wijk, M. Saraga, D. Santoro, G. Conti, P. Zamboli, Hope I. White, D. Drożdż, K. Zachwieja, M. Miklaszewska, M. Tkaczyk, D. Tomczyk, A. Krakowska, P. Sikora, T. Jarmoliński, M. Borszewska-Kornacka, Robert Pawluch, M. Szczepańska, P. Adamczyk, M. Mizerska-Wasiak, Grażyna Krzemień, Agnieszka Szmigielska, M. Zaniew, M. G. Dobson, John M. Darlow, P. Puri, D. Barton, S. Furth, B. Warady, Z. Gucev, V. Lozanovski, V. Tasic, I. Pisani, L. Allegri, Lida M Rodas, J. Campistol, C. Jeanpierre, S. Alam, P. Casale, Craig S. Wong, Fangming Lin, D. Miranda, E. A. Oliveira, A. C. Simões-e-Silva, J. Barasch, B. Levy, N. Wu, F. Hildebrandt, G. Ghiggeri, A. Latos-Bieleńska, A. Materna-Kiryluk, Feng Zhang, H. Hakonarson, V. Papaioannou, C. Mendelsohn, A. Gharavi, S. Sanna-Cherchi   +89 more
semanticscholar   +1 more source

Genetic copy number variation and general cognitive ability.

PLoS ONE, 2012
Differences in genomic structure between individuals are ubiquitous features of human genetic variation. Specific copy number variants (CNVs) have been associated with susceptibility to numerous complex psychiatric disorders, including attention-deficit ...
Andrew K MacLeod, Gail Davies, Antony Payton, Albert Tenesa, Sarah E Harris, David Liewald, Xiayi Ke, Michelle Luciano, Lorna M Lopez, Alan J Gow, Janie Corley, Paul Redmond, Geraldine McNeill, Andrew Pickles, William Ollier, Michael Horan, John M Starr, Neil Pendleton, Pippa A Thomson, David J Porteous, Ian J Deary   +20 more
doaj   +1 more source

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

BMC Bioinformatics, 2021
Background As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlooked or ...
Dayne L. Filer, Fengshen Kuo, Alicia T. Brandt, Christian R. Tilley, Piotr A. Mieczkowski, Jonathan S. Berg, Kimberly Robasky, Yun Li, Chris Bizon, Jeffery L. Tilson, Bradford C. Powell, Darius M. Bost, Clark D. Jeffries, Kirk C. Wilhelmsen   +13 more
doaj   +1 more source