Results 21 to 30 of about 9,621,488 (249)

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
core   +1 more source

Understanding the impact of 1q21.1 copy number variant

Orphanet Journal of Rare Diseases, 2011
Background 1q21.1 Copy Number Variant (CNV) is associated with a highly variable phenotype ranging from congenital anomalies, learning deficits/intellectual disability (ID), to a normal phenotype.
Harvard Chansonette, Strong Emma, Mercier Eloi, Colnaghi Rita, Alcantara Diana, Chow Eva, Martell Sally, Tyson Christine, Hrynchak Monica, McGillivray Barbara, Hamilton Sara, Marles Sandra, Mhanni Aziz, Dawson Angelika J, Pavlidis Paul, Qiao Ying, Holden Jeanette J, Lewis Suzanne ME, O'Driscoll Mark, Rajcan-Separovic Evica   +19 more
doaj   +1 more source

Assessment of circulating copy number variant detection for cancer screening. [PDF]

PLoS ONE, 2017
Current high-sensitivity cancer screening methods, largely utilizing correlative biomarkers, suffer from false positive rates that lead to unnecessary medical procedures and debatable public health benefit overall.
Bhuvan Molparia, Eshaan Nichani, Ali Torkamani   +2 more
doaj   +1 more source

Copy number variants and selective sweeps in natural populations of the house mouse (Mus musculus domesticus) [PDF]

, 2014
Copy–number variants (CNVs) may play an important role in early adaptations, potentially facilitating rapid divergence of populations. We describe an approach to study this question by investigating CNVs present in natural populations of mice in the ...
Diethard eTautz, JarosÅ‚aw Bryk, Bryk, Jarek, Tautz, D. ; https://orcid.org/, Jarosław eBryk, Bryk, J., Diethard Tautz, Tautz, Diethard   +7 more
core   +1 more source

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
core   +1 more source

Identification and characterization of disease-related copy number variations (CNVs) by high-dense SNP oligonucleotide microarrays [PDF]

, 2012
Genomic microarray analysis is rapidly replacing conventional chromosome analysis by molecular karyotyping due to the significant increase in the power to detect causative CNVs.
Rivera Brugués, Núria
core   +6 more sources

Genomic variability in Mexican chicken population using copy number variants

BMC Genetics, 2017
Background Copy number variations are genome polymorphism that influence phenotypic variation and are an important source of genetic variation in populations.
E. Gorla, M. C. Cozzi, S. I. Román-Ponce, F. J. Ruiz López, V. E. Vega-Murillo, S. Cerolini, A. Bagnato, M. G. Strillacci   +7 more
doaj   +1 more source

Extensive Copy-Number Variation of Young Genes across Stickleback Populations [PDF]

, 2014
MM received funding from the Max Planck innovation funds for this project. PGDF was supported by a Marie Curie European Reintegration Grant (proposal nr 270891). CE was supported by German Science Foundation grants (DFG, EI 841/4-1 and EI 841/6-1).
Manfred Milinski (47828), Samonte, I., Tobias L. Lenz, Erich Bornberg-Bauer (135063), Bornberg-Bauer, E, Reusch, Thorsten B. H., Mahesh Panchal, Philine G. D. Feulner, Panchal, Mahesh, Philine G D Feulner, Samonte, IE, Feulner, P., Panchal, M., Philine G. D. Feulner (331067), Milinski, Manfred, Eizaguirre, C, Samonte, Irene E., Monika Stoll (77524), Kalbe, M., Monika Stoll, Reusch, TBH, Christophe Eizaguirre (669459), Chain, Frédéric J. J., Stoll, Monika, Irene E. Samonte (669460), Irene E Samonte, Reusch, T., Lenz, TL, Christophe Eizaguirre, Kalbe, Martin, Manfred Milinski, Panchal, M, Frédéric J. J. Chain (270412), Eizaguirre, C., Thorsten B H Reusch, Martin Kalbe, Martin Kalbe (47827), Chain, F. J. J., Chain, F., Kalbe, M, Eizaguirre, Christophe, Frédéric J. J. Chain, Lenz, T. L., Mahesh Panchal (669458), Reusch, Thorsten B.H., Thorsten B. H. Reusch (333945), Lenz, T., Stoll, M., Milinski, M, Tobias L Lenz, Feulner, Philine, Bornberg-Bauer, Erich, Irene E. Samonte, Chain, FJJ, Erich Bornberg-Bauer, Samonte, I. E., Stoll, M, Feulner, PGD, Zhang, Jianzhi, Feulner, P. G. D., Bornberg-Bauer, E., Thorsten B. H. Reusch, Frédéric J J Chain, Milinski, M., Tobias L. Lenz (669461), Lenz, Tobias L.   +65 more
core   +3 more sources

Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance

Frontiers in Genetics, 2022
This study aimed to evaluate inter-laboratory classification concordance for copy number variants (CNVs) with a semiquantitative point-based scoring metric recommended by the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome ...
Kuo Zhang, Guigao Lin, Dongsheng Han, Yanxi Han, Rongxue Peng, Jinming Li   +5 more
doaj   +1 more source

Association tests and software for copy number variant data

Human Genomics, 2009
Recent studies have suggested that copy number variation (CNV) significantly contributes to genetic predisposition to several common disorders. These findings, combined with the imperfect tagging of CNVs by single nucleotide polymorphisms (SNPs), have ...
Plagnol Vincent
doaj   +1 more source