Results 31 to 40 of about 1,217,732 (304)

Copy number variation in African Americans

BMC Genetics, 2009
Background Copy number variants (CNVs) have been identified in several studies to be associated with complex diseases. It is important, therefore, to understand the distribution of CNVs within and among populations.
Caillier Stacy J, Nelson Matthew R, McElroy Joseph P, Oksenberg Jorge R   +3 more
doaj   +1 more source

Natural variation in the consequences of gene overexpression and its implications for evolutionary trajectories

eLife, 2021
Copy number variation through gene or chromosome amplification provides a route for rapid phenotypic variation and supports the long-term evolution of gene functions.
DeElegant Robinson, Michael Place, James Hose, Adam Jochem, Audrey P Gasch   +4 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).
A Abyzov, A Alexa, A Conesa, A Hussain, AJ Iafrate, AJ Sharp, AJ Vilella, AR Boyko, AR Quinlan, B Guo, BE Deagle, C Eizaguirre, C Eizaguirre, Christophe Eizaguirre, CL McGrath, CL Peichel, D Bryant, D Juan, D Tautz, DE Cook, DH Huson, DJ Turner, DR Schrider, DR Schrider, DR Zerbino, E Gazave, E Proux, Erich Bornberg-Bauer, FA Kondrashov, FC Jones, Frédéric J. J. Chain, G Gibson, G Orti, GC Conant, GH Perry, GH Perry, GM Cooper, H Kehrer-Sawatzki, H Li, Irene E. Samonte, J Sebat, JA Fawcett, Jianzhi Zhang, JJ Emerson, JK Colbourne, JO Korbel, JO Korbel, K Chen, K Khalturin, K Ye, KJ Lipinski, KJ Livak, KM Teshima, KM Wegner, L Xu, LC Hsing, LR Saraiva, M Hiraiwa, M Long, M Long, M Lynch, M Lynch, M Milinski, M Roesti, MA DePristo, Mahesh Panchal, Manfred Milinski, Martin Kalbe, Monika Stoll, N Ghanem, P Danecek, P Flicek, P Sjödin, PA Hohenlohe, PGD Feulner, PH Sudmant, Philine G. D. Feulner, PM Kim, R Redon, RC Iskow, S Moretti, S Sawyer, SF Altschul, SH Williamson, SM Waszak, SR Browning, T Marques-Bonet, T Rausch, TD Schmittgen, Thorsten B. H. Reusch, Tobias L. Lenz, V Guryev, V Katju, V Katju, V Ranwez, X Huang, Y Hashiguchi, Y Hashiguchi, Y Zheng, YE Zhang, YF Chan, Z Yang   +101 more
core   +3 more sources

Genetic association studies of copy-number variation: should assignment of copy number states precede testing? [PDF]

PLoS ONE, 2012
Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number ...
Patrick Breheny, Prabhakar Chalise, Anthony Batzler, Liewei Wang, Brooke L Fridley   +4 more
doaj   +1 more source

Copy Number Variation Analysis of Euploid Pregnancy Loss

Frontiers in Genetics, 2022
Objectives: Copy number variant (CNV) is believed to be the potential genetic cause of pregnancy loss. However, CNVs less than 3 Mb in euploid products of conceptions (POCs) remain largely unexplored. The aim of this study was to investigate the features
Chongjuan Gu, Huan Gao, Kuanrong Li, Xinyu Dai, Zhao Yang, Ru Li, Canliang Wen, Yaojuan He   +7 more
doaj   +1 more source

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
core   +2 more sources

Copy Number Variation Disorders [PDF]

Current Genetic Medicine Reports, 2017
Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively ...
openaire   +2 more sources

Copy Number Variation in Domestication [PDF]

Trends in Plant Science, 2019
Domesticated plants have long served as excellent models for studying evolution. Many genes and mutations underlying important domestication traits have been identified, and most causal mutations appear to be SNPs. Copy number variation (CNV) is an important source of genetic variation that has been largely neglected in studies of domestication ...
Zoe N, Lye, Michael D, Purugganan
openaire   +2 more sources

Copy number variations and cancer [PDF]

Genome Medicine, 2009
DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in ...
Shlien, Adam, Malkin, David
openaire   +2 more sources

Copy number variation and neuropsychiatric illness [PDF]

Current Opinion in Genetics & Development, 2021
Copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression. These CNVs are individually rare (
Rees, Elliott, Kirov, George
openaire   +2 more sources