Results 51 to 60 of about 10,451,845 (193)

Web-Based Database and Viewer of East Asian Copy Number Variations [PDF]

Genomics & Informatics, 2012
We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in
Ji-Hong Kim, Hae-Jin Hu, Yeun-Jun Chung
doaj   +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

dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations

BMC Genomics, 2023
Background Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize the relationship between these variants and
Kangqi Lv, Dayang Chen, Dan Xiong, Huamei Tang, Tong Ou, Lijuan Kan, Xiuming Zhang   +6 more
doaj   +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
Zhao, Qian, Han, Min-Jin, Sun, Wei, Zhang, Ze   +3 more
openaire   +2 more sources

X-CNV: genome-wide prediction of the pathogenicity of copy number variations

Genome Medicine, 2021
Background Gene copy number variations (CNVs) contribute to genetic diversity and disease prevalence across populations. Substantial efforts have been made to decipher the relationship between CNVs and pathogenesis but with limited success.
Li Zhang, Jingru Shi, Jian Ouyang, Riquan Zhang, Yiran Tao, Dongsheng Yuan, Chengkai Lv, Ruiyuan Wang, Baitang Ning, Ruth Roberts, Weida Tong, Zhichao Liu, Tieliu Shi   +12 more
doaj   +1 more source

Abundant β-Defensin Copy Number Variations in Pigs. [PDF]

Genes (Basel)
Background/Objectives: β-defensins are a family of classical endogenous antimicrobial peptides involved in innate immune response. β-defensins are encoded by a large number of loci and known to show extensive copy number variations (CNVs) that ...
Kim D, Cho HS, Kang M, Ahn B, Shin J, Park C.   +5 more
europepmc   +2 more sources

Identification and characterization of copy number variations in cattle [PDF]

, 2016
Identification and characterization of copy number variations in ...
Boichard, Didier, Barbieri, Johanna, Klopp, Christophe,, Klopp, Christophe, Letaief, Rabia, Fritz, Sebastien, Rocha, Dominique, Grohs, Cécile, Esquerre, Diane, Philippe, Romain, Blanquet, Véronique, Boussaha, Mekki   +11 more
core   +1 more source

Pedigrees with copy number variations in IRD genes.

, 2021
Pedigrees with copy number variations in IRD genes.
Pongali B. Raghavendra (11577002), S. Amer Riazuddin (7072268), J. Fielding Hejtmancik (8028365), Kelly A. Frazer (11577020), Hiroko Matsui (8140410), Kari Branham (8791784), Benjamin Bakall (297081), Akhila Alapati (11577008), Naheed W. Khan (7537526), Gabriele Richard (11576993), Jacque L. Duncan (11576987), John Suk (793365), Angel Soto-Hermida (658999), Adda L. Villanueva (11576984), Sindhu Devalaraja (11577005), Sheikh Riazuddin (92774), Jeffrey L. Goldberg (9767388), Shyamanga Borooah (491949), Paul A. Sieving (117954), Luis Gabriel (11576999), Bonnie Huang (2817592), Richard G. Weleber (11577014), John R. Heckenlively (11577017), Berzhan Kurmanov (8263497), Radha Ayyagari (44006), Jason Zhou (8937986), Qais Zawaydeh (11577011), Pooja Biswas (793361), Shahid Y. Khan (8103215), Andrew Huynh (680052)   +29 more
core   +1 more source

Copy Number Variation of Circulating Tumor DNA (ctDNA) Detected Using NIPT in Neoadjuvant Chemotherapy-Treated Ovarian Cancer Patients

Frontiers in Genetics, 2022
Analysis of circulating tumor DNA (ctDNA) can be used to characterize and monitor cancers. Recently, non-invasive prenatal testing (NIPT) as a new next-generation sequencing (NGS)-based approach has been applied for detecting ctDNA.
Mina Sharbatoghli, Mina Sharbatoghli, Fahimeh Fattahi, Hamidreza Aboulkheyr Es, Arvand Akbari, Setareh Akhavan, Marzieh Ebrahimi, Mohsen Asadi-Lari, Mohsen Asadi-Lari, Mehdi Totonchi, Mehdi Totonchi, Zahra Madjd, Zahra Madjd   +12 more
doaj   +1 more source

Copy number variation goes clinical [PDF]

Genome Biology, 2009
A report of the First Golden Helix Symposium 'Copy Number Variation (CNV) and Genomic Alterations in Health and Disease', Athens, Greece, 28-29 November 2008.
Le Caignec, Cédric, Redon, Richard
openaire   +2 more sources