Literature DB >> 20891030

CNV analysis using TaqMan copy number assays.

Ping Mayo1, Toinette Hartshorne, Kelly Li, Chara McMunn-Gibson, Kylee Spencer, Nathalie Schnetz-Boutaud.   

Abstract

Copy number variations are important polymorphisms that can influence the expression of genes within and close to the rearranged region. This allows transcription levels to be higher or lower than those that can be achieved by control of transcription of a single copy. Recently, copy number variations have been associated with genetic diseases such as cancer, immune diseases, and neurological disorders. TaqMan copy number assays are designed to detect and measure copy number variation in the human genome using real-time polymerase chain reaction and unquenching of fluorescent probes for the target sequence.

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Year:  2010        PMID: 20891030     DOI: 10.1002/0471142905.hg0213s67

Source DB:  PubMed          Journal:  Curr Protoc Hum Genet        ISSN: 1934-8258


  13 in total

1.  SHC2 gene copy number in multiple system atrophy (MSA).

Authors:  Marcus C Ferguson; Emily M Garland; Lora Hedges; Bethany Womack-Nunley; Rizwan Hamid; John A Phillips; Cyndya A Shibao; Satish R Raj; Italo Biaggioni; David Robertson
Journal:  Clin Auton Res       Date:  2013-10-30       Impact factor: 4.435

2.  A functional copy-number variation in MAPKAPK2 predicts risk and prognosis of lung cancer.

Authors:  Bin Liu; Lei Yang; Binfang Huang; Mei Cheng; Hui Wang; Yinyan Li; Dongsheng Huang; Jian Zheng; Qingchu Li; Xin Zhang; Weidong Ji; Yifeng Zhou; Jiachun Lu
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025

3.  Somatic alterations of CDKN1B are associated with small bowel neuroendocrine tumors.

Authors:  Jessica E Maxwell; Scott K Sherman; Guiying Li; Allen B Choi; Andrew M Bellizzi; Thomas M O'Dorisio; James R Howe
Journal:  Cancer Genet       Date:  2015-09-15

4.  Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.

Authors:  Amy J Turner; Praful Aggarwal; Erin C Boone; Cyrine-Eliana Haidar; Mary V Relling; Ashley D Derezinski; Ulrich Broeckel; Andrea Gaedigk
Journal:  J Mol Diagn       Date:  2021-02-22       Impact factor: 5.568

5.  Reticulocyte hemoglobin equivalent to detect thalassemia and thalassemic hemoglobin variants.

Authors:  Å A Sudmann; A Piehler; P Urdal
Journal:  Int J Lab Hematol       Date:  2012-07-06       Impact factor: 2.877

6.  Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR.

Authors:  Runa M Grimholt; Petter Urdal; Olav Klingenberg; Armin P Piehler
Journal:  BMC Hematol       Date:  2014-01-24

7.  Glutaminase 2 negatively regulates the PI3K/AKT signaling and shows tumor suppression activity in human hepatocellular carcinoma.

Authors:  Juan Liu; Cen Zhang; Meihua Lin; Wei Zhu; Yingjian Liang; Xuehui Hong; Yuhan Zhao; Ken H Young; Wenwei Hu; Zhaohui Feng
Journal:  Oncotarget       Date:  2014-05-15

8.  De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Authors:  James R Priest; Kazutoyo Osoegawa; Nebil Mohammed; Vivek Nanda; Ramendra Kundu; Kathleen Schultz; Edward J Lammer; Santhosh Girirajan; Todd Scheetz; Daryl Waggott; Francois Haddad; Sushma Reddy; Daniel Bernstein; Trudy Burns; Jeffrey D Steimle; Xinan H Yang; Ivan P Moskowitz; Matthew Hurles; Richard P Lifton; Debbie Nickerson; Michael Bamshad; Evan E Eichler; Seema Mital; Val Sheffield; Thomas Quertermous; Bruce D Gelb; Michael Portman; Euan A Ashley
Journal:  PLoS Genet       Date:  2016-04-08       Impact factor: 5.917

9.  Association of TLR7 and TSHR copy number variation with Graves' disease and Graves' ophthalmopathy in Chinese population in Taiwan.

Authors:  Wen-Ling Liao; Lei Wan; Tzu-Yuan Wang; Ching-Chu Chen; Siu-San Tse; Chieh-Hsiang Lu; Fuu-Jen Tsai
Journal:  BMC Ophthalmol       Date:  2014-02-11       Impact factor: 2.209

10.  Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

Authors:  Hamid Reza Saadati; Michael Wittig; Ingo Helbig; Robert Häsler; Carl A Anderson; Christopher G Mathew; Limas Kupcinskas; Miles Parkes; Tom Hemming Karlsen; Philip Rosenstiel; Stefan Schreiber; Andre Franke
Journal:  BMC Med Genet       Date:  2016-04-01       Impact factor: 2.103

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