Results 41 to 50 of about 1,761,319 (295)

Kernel-based aggregation of marker-level genetic association tests involving copy-number variation [PDF]

, 2013
Genetic association tests involving copy-number variants (CNVs) are complicated by the fact that CNVs span multiple markers at which measurements are taken. The power of an association test at a single marker is typically low, and it is desirable to pool
Breheny, Patrick, Li, Yinglei
core   +3 more sources

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

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]

, 2018
Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T, Leite, Renata, Pasqualucci, Carlos Augusto, Pearson, Peter, Rosenberg, Carla, Suemoto, Claudia K, Suemoto, Claudia K, Villela, Darine   +7 more
core   +1 more source

Sequence and annotation of 42 cannabis genomes reveals extensive copy number variation in cannabinoid synthesis and pathogen resistance genes

bioRxiv, 2020
Cannabis is a diverse and polymorphic species. To better understand cannabinoid synthesis inheritance and its impact on pathogen resistance, we shotgun sequenced and assembled a Cannabis trio (sibling pair and their offspring) utilizing long read single ...
K. McKernan, Yvonne Helbert, Liam T Kane, H. Ebling, Lei Zhang, Biao Liu, Zachary Eaton, Stephen McLaughlin, S. Kingan, P. Baybayan, G. Concepcion, M. Jordan, A. Riva, William Barbazuk, T. Harkins   +14 more
semanticscholar   +1 more source

Copy number variations among silkworms [PDF]

BMC Genomics, 2014
Abstract Background Copy number variations (CNVs), which are important source for genetic and phenotypic variation, have been shown to be associated with disease as well as important QTLs, especially in domesticated animals. However, little is known about the CNVs in silkworm. Results
Qian Zhao, Wei Sun, Ze Zhang, Min-Jin Han   +3 more
openaire   +2 more sources

Human amylase gene copy number variation as a determinant of metabolic state [PDF]

, 2018
Introduction Humans have multiple genes encoding amylase that are broadly divided into salivary (AMY1) and pancreatic (AMY2) genes. They exhibit some of the greatest copy numbers of any human gene, an expansion possibly driven by increased dietary ...
Barber, T. (Thomas), Burnett, D., Elder, P. J. D., Ramsden, D. B., Weickert, Martin O.   +4 more
core   +1 more source

A remark on copy number variation detection methods. [PDF]

PLoS ONE, 2018
Copy number variations (CNVs) are gain and loss of DNA sequence of a genome. High throughput platforms such as microarrays and next generation sequencing technologies (NGS) have been applied for genome wide copy number losses.
Shuo Li, Xialiang Dou, Ruiqi Gao, Xinzhou Ge, Minping Qian, Lin Wan   +5 more
doaj   +1 more source

Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy

Frontiers in Genetics, 2021
The purpose of this study was to explore the copy number variations (CNVs) associated with miscarriage during early and middle pregnancy and provide useful genetic guidance for pregnancy and prenatal diagnosis.
Heming Wu, Heming Wu, Qingyan Huang, Qingyan Huang, Xia Zhang, Xia Zhang, Zhikang Yu, Zhikang Yu, Zhixiong Zhong, Zhixiong Zhong   +9 more
doaj   +1 more source

Gene clustering and copy number variation in alkaloid metabolic pathways of opium poppy

Nature Communications, 2020
Genes in plant secondary metabolic pathways enable biosynthesis of a range of medically and industrially important compounds, and are often clustered on chromosomes.
Qiushi Li, S. Ramasamy, Pooja Singh, J. M. Hagel, Sonja M. Dunemann, Xue Chen, Rongji Chen, Lisa Yu, Joseph E. Tucker, P. Facchini, S. Yeaman   +10 more
semanticscholar   +1 more source

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   +3 more sources