Results 11 to 20 of about 1,695,985 (356)

Copy number variation in African Americans [PDF]

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   +4 more sources

Mitochondrial DNA copy number variation across human cancers [PDF]

eLife, 2016
Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project.
Ed Reznik, Martin L Miller, Yasin Şenbabaoğlu, Nadeem Riaz, Judy Sarungbam, Satish K Tickoo, Hikmat A Al-Ahmadie, William Lee, Venkatraman E Seshan, A Ari Hakimi, Chris Sander   +10 more
doaj   +3 more sources

Copy number variation across European populations. [PDF]

PLoS ONE, 2011
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen, Caroline Hayward, Alan F Wright, Andrew A Hicks, Veronique Vitart, Sara Knott, Sarah H Wild, Peter P Pramstaller, James F Wilson, Igor Rudan, David J Porteous   +10 more
doaj   +5 more sources

Copy number variation in Thai population. [PDF]

PLoS ONE, 2014
Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation.
Bhoom Suktitipat, Chaiwat Naktang, Wuttichai Mhuantong, Thitima Tularak, Paramita Artiwet, Ekawat Pasomsap, Wallaya Jongjaroenprasert, Suthat Fuchareon, Surakameth Mahasirimongkol, Wasan Chantratita, Boonsit Yimwadsana, Varodom Charoensawan, Natini Jinawath   +12 more
doaj   +1 more source

Copy number variation in the horse genome. [PDF]

PLoS Genetics, 2014
We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse.
Sharmila Ghosh, Zhipeng Qu, Pranab J Das, Erica Fang, Rytis Juras, E Gus Cothran, Sue McDonell, Daniel G Kenney, Teri L Lear, David L Adelson, Bhanu P Chowdhary, Terje Raudsepp   +11 more
doaj   +1 more source

Copy Number Variation in Inflammatory Breast Cancer

Cells, 2023
Identification of a unique genomic biomarker in de novo inflammatory breast cancer (IBC) may provide an insight into the biology of this aggressive disease. The goal of our study was to elucidate biomarkers associated with IBC.
Aditi Hazra, Andrea O’Hara, Kornelia Polyak, Faina Nakhlis, Beth T. Harrison, Antonio Giordano, Beth Overmoyer, Filipa Lynce   +7 more
doaj   +1 more source

Copy Number Variation at the APOL1 Locus. [PDF]

PLoS ONE, 2015
Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease ...
Rupam Ruchi, Giulio Genovese, Jessica Lee, Victoria T Charoonratana, Andrea J Bernhardy, Seth L Alper, Jeffrey B Kopp, Ravi Thadhani, David J Friedman, Martin R Pollak   +9 more
doaj   +1 more source

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

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

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