Results 21 to 30 of about 11,641,417 (251)

Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus

BMC Genomics, 2010
Background Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes.
Kim Hyung-Lae, Hong Eun-Jung, Ryu Gil-Mi, Nam Hye-Young, Shim Sung-Mi, Jeon Jae-Pil, Han Bok-Ghee   +6 more
doaj   +1 more source

Somatic Copy Number Alteration detection and Copy Number signature analysis in High-Grade Serous Ovarian Cancer [PDF]

, 2022
openSomatic copy number alterations (sCNAs) are a type of genomic variation that affects the dosage of DNA sequences promoting tumorigenesis such as in High grade serous ovarian cancer.
MICOLI, GIULIA
core  

Quantification of Plasmid Copy Number with Single Colour Droplet Digital PCR. [PDF]

PLoS ONE, 2017
Bacteria can be considered as biological nanofactories that manufacture a cornucopia of bioproducts most notably recombinant proteins. As such, they must perfectly match with appropriate plasmid vectors to ensure successful overexpression of target genes.
Magdalena Plotka, Mateusz Wozniak, Tadeusz Kaczorowski   +2 more
doaj   +1 more source

Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution [PDF]

, 2010
Chromosomal rearrangements and copy number variants (CNVs) play key roles in genome evolution and genetic disease; however, the molecular mechanisms underlying these types of structural genomic variation are not fully understood.
Skinner, Benjamin M., Bunzey, Sydney K., Ellegren, Hans, Völker, Martin, Backström, Niclas, Langley, Elizabeth J, Griffin, Darren K.   +6 more
core   +1 more source

Copy Number Variations Analysis Identifies QPRT as a Candidate Gene Associated With Susceptibility for Solitary Functioning Kidney

Frontiers in Genetics, 2021
BackgroundThe lack of understanding of molecular pathologies of the solitary functioning kidney makes improving and strengthening the continuity of care between pediatric and adult nephrological patients difficult.
Xiao Y. Zhou, Hao Y. Zheng, Li Han, Yan Wang, Li Zhang, Xiao M. Shu, Mu L. Zhang, Guan N. Liu, Lian S. Ding   +8 more
doaj   +1 more source

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

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

CGHpower: exploring sample size calculations for chromosomal copy number experiments [PDF]

, 2010
Background Determining a suitable sample size is an important step in the planning of microarray experiments. Increasing the number of arrays gives more statistical power, but adds to the total cost of the experiment.
Scheinin, A.I., Ferreira, J.A., Mark A van de Wiel, Scheinin Ilari, Gerrit A Meijer, Bauke Ylstra, Ylstra Bauke, Ilari Scheinin, Knuutila, Sakari, Ferreira, Jose A., José A Ferreira, Knuutila Sakari, Scheinin, Ilari, Knuutila, S., van de Wiel, Mark A., Wiel, M.A. van de, Sakari Knuutila, Ferreira José A, Ylstra, Bauke, Meijer Gerrit A, Meijer, Gerrit A., Ylstra, B., Meijer, G.A., van de Wiel, M.A., van de Wiel Mark A   +24 more
core   +3 more sources

Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos [PDF]

Genomics & Informatics, 2014
Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies.
Jin Ok Yang, Sohyun Hwang, Woo-Yeon Kim, Seong-Jin Park, Sang Cheol Kim, Kiejung Park, Byungwook Lee,   +7 more
doaj   +1 more source

A genetic risk score for glioblastoma multiforme based on copy number variations

Cancer Treatment and Research Communications, 2021
Glioblastoma multiforme is the most common form of brain cancer. Several lines of evidence suggest that glioblastoma multiforme has a genetic basis. A genetic test that could identify people who are at high risk of developing glioblastoma multiforme ...
Charmeine Ko, James P. Brody
doaj   +1 more source