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Copy number variation

iCopyDAV: Integrated platform for copy number variations—Detection, annotation and visualization

Prashanthi Dharanipragada, Sriharsha Vogeti, Nita Parekh

published 05 Apr 2018

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Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference

Kateryna Shebanits, Johanna C. Andersson-Assarsson, Ingrid Larsson, Lena M. S. Carlsson, Lars Feuk, Dan Larhammar

published 05 Apr 2018

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Analysis of copy number loss of the ErbB4 receptor tyrosine kinase in glioblastoma

DeAnalisa C. Jones, Adriana Scanteianu, Matthew DiStefano, Mehdi Bouhaddou, Marc R. Birtwistle

published 17 Jan 2018

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aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations

Victor Renault, Jörg Tost, Fabien Pichon, Shu-Fang Wang-Renault, Eric Letouzé, Sandrine Imbeaud, Jessica Zucman-Rossi, Jean-François Deleuze, Alexandre How-Kit

published 19 Dec 2017

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Copy number variation analysis in cytochromes and glutathione S-transferases may predict efficacy of tyrosine kinase inhibitors in chronic myeloid leukemia

Alexander V. Lavrov, Oksana A. Ustaeva, Elmira P. Adilgereeva, Svetlana A. Smirnikhina, Ekaterina Y. Chelysheva, Oleg A. Shukhov, Yuriy V. Shatokhin, Sergey V. Mordanov, Anna G. Turkina, Sergey I. Kutsev

published 13 Sep 2017

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Whole-genome sequencing reveals mutational landscape underlying phenotypic differences between two widespread Chinese cattle breeds

Yao Xu, Yu Jiang, Tao Shi, Hanfang Cai, Xianyong Lan, Xin Zhao, Martin Plath, Hong Chen

published 25 Aug 2017

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Highly dynamic temporal changes of TSPY gene copy number in aging bulls

Olutobi A. Oluwole, Kiana Mahboubi, Laura A. Favetta, Tamas Revay, Tom Kroetsch, William Allan King

published 26 May 2017

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Copy number variation of FCGR genes in etiopathogenesis of sarcoidosis

Marlena Typiak, Krzysztof Rębała, Agnieszka Haraś, Monika Skotarczak, Jan Marek Słomiński, Anna Dubaniewicz

published 04 May 2017

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A new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma

Tajana Tešan Tomić, Josefin Olausson, Annica Wilzén, Magnus Sabel, Katarina Truvé, Helene Sjögren, Sándor Dósa, Magnus Tisell, Birgitta Lannering, Fredrik Enlund, Tommy Martinsson, Pierre Åman, Frida Abel

published 27 Apr 2017

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Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X

Barbara R. Migeon, Michael A. Beer, Hans T. Bjornsson

published 12 Apr 2017

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Diversification of spatiotemporal expression and copy number variation of the echinoid hbox12/pmar1/micro1 multigene family

Vincenzo Cavalieri, Fabiana Geraci, Giovanni Spinelli

published 28 Mar 2017

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Novel copy number variation of the TGFβ3 gene is associated with TGFβ3 gene expression and duration of fertility traits in hens

Lantao Gu, Chenghao Sun, Yangzhang Gong, Mei Yu, Shijun Li

published 16 Mar 2017

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Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

Doug D. Chung, Ricardo F. Frausto, Aleck E. Cervantes, Katherine M. Gee, Marina Zakharevich, Evelyn M. Hanser, Edwin M. Stone, Elise Heon, Anthony J. Aldave

published 03 Jan 2017

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