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Mutation detection

Accurate detection of low prevalence AKT1 E17K mutation in tissue or plasma from advanced cancer patients

Elza C. de Bruin, Jessica L. Whiteley, Claire Corcoran, Pauline M. Kirk, Jayne C. Fox, Javier Armisen, Justin P. O. Lindemann, Gaia Schiavon, Helen J. Ambrose, Alexander Kohlmann

published 04 May 2017

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Ultra-deep sequencing reveals high prevalence and broad structural diversity of hepatitis B surface antigen mutations in a global population

Mikael Gencay, Kirsten Hübner, Peter Gohl, Anja Seffner, Michael Weizenegger, Dionysios Neofytos, Richard Batrla, Andreas Woeste, Hyon-suk Kim, Gaston Westergaard, Christine Reinsch, Eva Brill, Pham Thi Thu Thuy, Bui Huu Hoang, Mark Sonderup, C. Wendy Spearman, Stephan Pabinger, Jérémie Gautier, Giuseppina Brancaccio, Massimo Fasano, Teresa Santantonio, Giovanni B. Gaeta, Markus Nauck, Wolfgang E. Kaminski

published 04 May 2017

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Feasibility of multiplexed gene mutation detection in plasma samples of colorectal cancer patients by mass spectrometric genotyping

Su-Jin Shin, Sung-Min Chun, Tae-Im Kim, Yu Jin Kim, Hyun-Jeung Choi, Se Jin Jang, Jihun Kim

published 01 May 2017

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A highly specific and sensitive massive parallel sequencer-based test for somatic mutations in non-small cell lung cancer

Yoshiaki Inoue, Jun Shiihara, Hitoshi Miyazawa, Hiromitsu Ohta, Megumi Higo, Yoshiaki Nagai, Kunihiko Kobayashi, Yasuo Saijo, Masanori Tsuchida, Mitsuo Nakayama, Koichi Hagiwara

published 27 Apr 2017

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Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei

Lilli Saarinen, Pirjo Nummela, Alexandra Thiel, Rainer Lehtonen, Petrus Järvinen, Heikki Järvinen, Lauri A. Aaltonen, Anna Lepistö, Sampsa Hautaniemi, Ari Ristimäki

published 20 Apr 2017

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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Meng Yu, Yiming Zheng, Suqin Jin, Qiang Gang, Qingqing Wang, Peng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang

published 12 Apr 2017

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Investigation of mutations in the HBB gene using the 1,000 genomes database

Tânia Carlice-dos-Reis, Jaime Viana, Fabiano Cordeiro Moreira, Greice de Lemos Cardoso, João Guerreiro, Sidney Santos, Ândrea Ribeiro-dos-Santos

published 05 Apr 2017

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TP53 mutation predicts the poor prognosis of non-Hodgkin lymphomas: Evidence from a meta-analysis

Peipei Xu, Xu Liu, Jian Ouyang, Bing Chen

published 03 Apr 2017

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Comparative accuracy of the REBA MTB MDR and Hain MTBDRplus line probe assays for the detection of multidrug-resistant tuberculosis: A multicenter, non-inferiority study

Joshua Havumaki, Doris Hillemann, Nazir Ismail, Shaheed Vally Omar, Sophia B. Georghiou, Samuel G. Schumacher, Catharina Boehme, Claudia M. Denkinger

published 24 Mar 2017

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Evaluating alignment and variant-calling software for mutation identification in C. elegans by whole-genome sequencing

Harold E. Smith, Sijung Yun

published 23 Mar 2017

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Prognostic value of plasma EGFR ctDNA in NSCLC patients treated with EGFR-TKIs

Chengjuan Zhang, Bing Wei, Peng Li, Ke Yang, Zhizhong Wang, Jie Ma, Yongjun Guo

published 23 Mar 2017

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Treatment monitoring in metastatic colorectal cancer patients by quantification and KRAS genotyping of circulating cell-free DNA

Andreas W. Berger, Daniel Schwerdel, Hanna Welz, Ralf Marienfeld, Stefan A. Schmidt, Alexander Kleger, Thomas J. Ettrich, Thomas Seufferlein

published 22 Mar 2017

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TP53 alterations in primary and secondary Sézary syndrome: A diagnostic tool for the assessment of malignancy in patients with erythroderma

Audrey Gros, Elodie Laharanne, Marie Vergier, Martina Prochazkova-Carlotti, Anne Pham-Ledard, Thomas Bandres, Sandrine Poglio, Sabine Berhouet, Béatrice Vergier, Jean-Philippe Vial, Edith Chevret, Marie Beylot-Barry, Jean-Philippe Merlio

published 16 Mar 2017

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