Results 51 to 60 of about 1,761,319 (295)

Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]

, 2017
Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +1 more source

Copy number variation in livestock: A mini review [PDF]

Veterinary World, 2018
Copy number variation (CNV) is a phenomenon in which sections of the genome, ranging from one kilo base pair (Kb) to several million base pairs (Mb), are repeated and the number of repeats vary between the individuals in a population.
V. Bhanuprakash, Supriya Chhotaray, D. R. Pruthviraj, Chandrakanta Rawat, A. Karthikeyan, Manjit Panigrahi   +5 more
doaj   +1 more source

Mosaic copy number variation in schizophrenia [PDF]

European Journal of Human Genetics, 2013
Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single ...
George Kirov, Patrick F. Sullivan, Jennifer L. Moran, David St Clair, Pamela Sklar, Christina M. Hultman, Christina M. Hultman, Elizabeth Suchi Chen, Patrick Magnusson, Carlos N. Pato, Carl Ernst, Douglas Blackwood, James F. Gusella, Michael J. Owen, Kim Chambert, Michael Conlon O'Donovan, Hugh Gurling, Aiden Corvin, Carolina Oliveira Gigek, Douglas M. Ruderfer, Douglas M. Ruderfer, Douglas M. Ruderfer, Michael E. Talkowski, Shaun Purcell, Shaun Purcell, Shaun Purcell   +25 more
openaire   +3 more sources

Evolutionary impact of copy number variation rates

BMC Research Notes, 2017
Objective Copy number variation is now recognized as one of the major sources of genetic variation among individuals in natural populations of any species.
Guillermo Rodrigo
doaj   +1 more source

Copy Number Variation and Schizophrenia [PDF]

Schizophrenia Bulletin, 2009
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
openaire   +3 more sources

Copy number variation in Parkinson's disease [PDF]

Genome Medicine, 2010
A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease processes, which is necessary to develop future treatments.
Owen A. Ross, Mathias Toft
openaire   +3 more sources

Genome-wide copy number variation study in anorectal malformations [PDF]

, 2013
Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity.
Baum, L, Chan, IHY, Chang, T, Cheng, G, Cherny, SS, Chung, HY, Cui, L, Garcia-Barcelo, MM, Kwan, P, Lau, YL, Liu, JJ, Liu, X, Lui, VCH, Miao, X, Ng, CL, Ngan, ESW, Ren, YQ, Sham, PC, So, MT, Sun, LD, Sun, XB, Tam, PKH, Tang, CSM, Tang, WK, Wang, HL, Wang, RY, Wong, EHM, Wong, KKY, Xia, JL, Yang, W, Yin, XY, Yip, BHK, Yuan, ZW, Zhang, R, Zhang, SW, Zhang, XJ, Zuo, XB   +36 more
core   +1 more source

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]

, 2016
Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J., Banihani, Ahmad H., Barthold, Julia Spencer, Chiavacci, Rosetta M., Devoto, Marcella, Figueroa, T. Ernesto, Gonzalez, Ricardo, Hagerty, Jennifer A., Hakonarson, Hakon, Harden, Kisha R., Kim, Cecilia E., Kolon, Thomas F., Li, Jin, Noh, Paul H., Olivant Fisher, Alicia, Sol Church, Katia, Stabley, Deborah, Wang, Yanping   +17 more
core   +1 more source

Copy number variation in familial Parkinson disease.

PLoS ONE, 2011
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single ...
Nathan Pankratz, Alexandra Dumitriu, Kurt N Hetrick, Mei Sun, Jeanne C Latourelle, Jemma B Wilk, Cheryl Halter, Kimberly F Doheny, James F Gusella, William C Nichols, Richard H Myers, Tatiana Foroud, Anita L DeStefano, PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories   +13 more
doaj   +1 more source

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Molecular Genetics & Genomic Medicine, 2020
Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown.
Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani   +12 more
doaj   +1 more source