Results 71 to 80 of about 1,761,319 (295)

Copy number variation genotyping using family information [PDF]

, 2013
BACKGROUND: In recent years there has been a growing interest in the role of copy number variations (CNV) in genetic diseases. Though there has been rapid development of technologies and statistical methods devoted to detection in CNVs from array data ...
Angela Rogers, Benjamin A Raby, Charles Lee, Iuliana Ionita-Laza, Jen-hwa Chu, Katayoon Darvishi, Ryan E Mills   +6 more
core   +2 more sources

Family-Based Benchmarking of Copy Number Variation Detection Software. [PDF]

PLoS ONE, 2015
The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases.
Marcel Elie Nutsua, Annegret Fischer, Almut Nebel, Sylvia Hofmann, Stefan Schreiber, Michael Krawczak, Michael Nothnagel   +6 more
doaj   +1 more source

A Copy Number Variation Morbidity Map of Developmental Delay

Nature Genetics, 2011
To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate
G. Cooper, Bradley P. Coe, S. Girirajan, J. Rosenfeld, Tiffany H. Vu, Carl A. Baker, C. Williams, H. Stalker, R. Hamid, V. Hannig, H. Abdel-Hamid, P. Bader, Elizabeth McCracken, D. Niyazov, K. Leppig, Heidi A. Thiese, M. Hummel, Nora Alexander, J. Gorski, J. Kussmann, V. Shashi, Krys Johnson, C. Rehder, B. Ballif, L. Shaffer, E. Eichler   +25 more
semanticscholar   +1 more source

Copy number variation analysis based on AluScan sequences [PDF]

, 2014
BACKGROUND: AluScan combines inter-Alu PCR using multiple Alu-based primers with opposite orientations and next-generation sequencing to capture a huge number of Alu-proximal genomic sequences for investigation.
Chan, JC, Chen, JF, Chen, L, Ding, XF, Ke, XY, Ke, YB, Kwong, A, Leung, GKK, Ma, RC, Mat, WK, Poon, WS, Tan, TC, Wang, JM, Xu, L, Xu, MZ, Xu, XY, Yang, YF, Yu, CH   +17 more
core   +1 more source

Large scale variation in DNA copy number in chicken breeds [PDF]

, 2013
Background Detecting genetic variation is a critical step in elucidating the molecular mechanisms underlying phenotypic diversity. Until recently, such detection has mostly focused on single nucleotide polymorphisms (SNPs) because of the ease in ...
Cheng, Hans H, Crooijmans, Richard Pma, Fife, Mark S, Fitzgerald, Tomas W, Groenen, Martien Am, Kaiser, Pete, Redon, Richard, Strickland, Shurnevia   +7 more
core   +4 more sources

Adaptation by copy number variation increases insecticide resistance in the fall armyworm

Communications Biology, 2020
Understanding the genetic basis of insecticide resistance is a key topic in agricultural ecology. The adaptive evolution of multi-copy detoxification genes has been interpreted as a cause of insecticide resistance, yet the same pattern can also be ...
S. Gimenez, H. Abdelgaffar, G. L. Goff, F. Hilliou, C. Blanco, Sabine Hänniger, A. Bretaudeau, F. Legeai, N. Negre, J. Jurat-Fuentes, E. d’Alençon, Kiwoong Nam   +11 more
semanticscholar   +1 more source

Copy number variation signature to predict human ancestry [PDF]

, 2012
Background Copy number variations (CNVs) are genomic structural variants that are found in healthy populations and have been observed to be associated with disease susceptibility.
Asgharzadeh, Shahab, Pique-Regi, Roger, Pronold, Melissa, Vali, Marzieh   +3 more
core   +2 more sources

CoNVaQ: a web tool for copy number variation-based association studies

BMC Genomics, 2018
Background Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases.
Simon Jonas Larsen, Luisa Matos do Canto, Silvia Regina Rogatto, Jan Baumbach   +3 more
doaj   +1 more source

STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods [PDF]

, 2017
The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +2 more sources

Copy Number Variation in Tourette Syndrome [PDF]

Neuron, 2017
In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
Stephen W. Scherer, Stephen W. Scherer, Anne S. Bassett   +2 more
openaire   +3 more sources