Results 11 to 20 of about 9,837,393 (260)

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact [PDF]

, 2022
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs can ...
Commission on Novel Technologies for Neurodevelopmental Copy Number Variants
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Somatic Copy Number Alteration detection and Copy Number signature analysis in High-Grade Serous Ovarian Cancer [PDF]

, 2022
openSomatic copy number alterations (sCNAs) are a type of genomic variation that affects the dosage of DNA sequences promoting tumorigenesis such as in High grade serous ovarian cancer.
MICOLI, GIULIA
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Identifying Copy Number Variations based on Next Generation Sequencing Data by a Mixture of Poisson Model [PDF]

, 2010
Next generation sequencing (NGS) technologies have profoundly impacted biological research and are becoming more and more popular due to cost effectiveness and their speed.
Andreas Mayr, Günter Klambauer, Sepp Hochreiter, Karin Schwarzbauer, Günter Klambauer   +4 more
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Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis.

PLoS Computational Biology, 2020
Copy number variants (CNVs) are the gain or loss of DNA segments in the genome that can vary in dosage and length. CNVs comprise a large proportion of variation in human genomes and impact health conditions.
Amanda Brucker, Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao, Ching-Heng Lin, Patrik K E Magnusson, Patrick F Sullivan, Jin P Szatkiewicz, Tzu-Pin Lu, Jung-Ying Tzeng   +11 more
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Including copy number variation in association studies to predict genotypic values [PDF]

, 2010
The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L., Haley, C.S., Koning, de, D.J.   +2 more
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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families [PDF]

, 2010
Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level.
Emma-Jane Taylor, Liehr, Thomas, Susanne Morlot, Joana Trindade, Ocraft, Kevin, Ana I Paramos, Viv K Maloney, Paramos Ana I, Bunyan Dave, Curtis, Merryl, Claudia Alves, Merryl Curtis, Maloney, Viv K., Dermitzel Anette, Bunyan, Dave, Denise Robinson, Dermitzel, Anette, Thomas Liehr, Alves Claudia, John CK Barber, Kevin Ocraft, Taylor, Emma-Jane, Clare Cooper, Alves, Claudia, Taylor Emma-Jane, Anette Dermitzel, Curtis Merryl, Ocraft Kevin, Barber John CK, Cooper Clare, Paramos, Ana I., Cooper, Clare, Liehr Thomas, Barber, John C.K., Robinson, Denise, Trindade Joana, Morlot, Susanne, Morlot Susanne, Robinson Denise, Maloney Viv K, Dave Bunyan, Trindade, Joana   +41 more
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Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction

BMC Pregnancy and Childbirth, 2022
Background Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period.
Xinyue Meng, Lili Jiang
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Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution [PDF]

, 2010
Chromosomal rearrangements and copy number variants (CNVs) play key roles in genome evolution and genetic disease; however, the molecular mechanisms underlying these types of structural genomic variation are not fully understood.
Skinner, Benjamin M., Bunzey, Sydney K., Ellegren, Hans, Völker, Martin, Backström, Niclas, Langley, Elizabeth J, Griffin, Darren K.   +6 more
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Copy number, linkage disequilibrium and disease association in the FCGR locus [PDF]

, 2010
The response of a leukocyte to immune complexes (ICs) is modulated by receptors for the Fc region of IgG (FcgammaRs), and alterations in their affinity or function have been associated with risk of autoimmune diseases, including systemic lupus ...
Padyukov, L, T. F. Rayner, Willcocks, Lisa C, W. Yang, L. C. Willcocks, J. A. G. Scott, S. J. Dunstan, Rayner, Tim F, I. Gunnarsson, Niederer, Heather A., Smith, KG, Peshu, N, B. C. Urban, Svenungsson, Elisabet, Scott, John, Clayton, David G., P. A. Lyons, Niederer, Heather A, Williams, TN, Lyons, Paul A., Urban, Britta, Scott, J. Anthony G., Y. L. Lau, Yang, Wanling, Williams, Thomas N., Willcocks, LC, L. Padyukov, Clayton, David G, N. Peshu, Watts, Richard A., Savage, Caroline, Yang, W, Dunstan, SJ, Dunstan, Sarah, Urban, BC, Watts, RA, N. H. Phu, T. T. Hien, Phu, Nguyen Hoan, Rayner, TF, Scott, JAG, Hien, Tran, Willcocks, Lisa C., Clayton, DG, Savage, CO, Lyons, PA, T. N. Williams, E. Svenungsson, K. G. C. Smith, Rayner, Tim F., Hien, TT, Hien, Tran Tinh, Svenungsson, E, Padyukov, Leonid, Smith, Kenneth G.C., Gunnarsson, I, Savage, Caroline O, Smith, Kenneth G C, Gunnarsson, Iva, Peshu, Norbert, Lau, YL, Phu, NH, Smith, KGC, Lau, Yu Lung, R. A. Watts, Watts, Richard A, Savage, Caroline O., Scott, JA, H. A. Niederer, Scott, J Anthony G, Urban, Britta C, Smith, Kenneth GC, Williams, Thomas N, C. O. Savage, D. G. Clayton, Niederer, HA, Williams, Thomas, Dunstan, Sarah J., Dunstan, Sarah J, Lyons, Paul A   +79 more
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cnvCapSeq: detecting copy number variation in long-range targeted resequencing data. [PDF]

, 2014
Targeted resequencing technologies have allowed for efficient and cost-effective detection of genomic variants in specific regions of interest. Although capture sequencing has been primarily used for investigating single nucleotide variants and indels ...
Bellos, Evangelos; https://orcid.org/, Bellos, Evangelos, Kumar, Vikrant, Cheng, C-Y, Cheng, CY, Wong, TYI, Davila, S, Bellos, E, Phua, ZYA, Maggi, Jordi; https://orcid.org/, Lin, C, Phua, Zai Yang, Coin, Lachlan J M, Coin, LJM, Hibberd, ML, Hibberd, Martin L., Wong, TY, Cheng, Ching-Yu, Gemmy Cheung, CM, Cheung, CMIG, Coin, Lachlan JM, Yang Phua, Z, Lin, Clarabelle, Maggi, Jordi, Kumar, V, Cheng, Ching Yu, Maggi, J, Hibberd, Martin L, Coin, Lachlan J.M., Cheung, Chui Ming Gemmy, Davila, Sonia, Wong, Tien Yin   +31 more
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