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[Journal Club] The Journal of Molecular Diagnostics: May 2018 (Volume 20, Issue 3)

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发表于 2018-4-19 07:59:01 | 显示全部楼层 |阅读模式
Special Article



Recommendations for Clinical CYP2C19 Genotyping Allele Selection
Victoria M. Pratt, Andria L. Del Tredici, Houda Hachad, Yuan Ji, Lisa V. Kalman, Stuart A. Scott, Karen E. Weck


Commentary



Hepatitis B Virus Covalently Closed Circular DNA–Selective Droplet Digital PCR
Fan Shen, Consolato Sergi, Hui-lung Sun


Technical Advance



Reference Size Matching, Whole-Genome Amplification, and Fluorescent Labeling as a Method for Chromosomal Microarray Analysis of Clinically Actionable Copy Number Alterations in Formalin-Fixed, Paraffin-Embedded Tumor Tissue
Shelly R. Gunn, Shailin Govender, Cynthe L. Sims, Aditi Khurana, Samuel Koo, Jayne Scoggin, Mathew W. Moore, Philip D. Cotter


Regular Articles



Spinocerebellar Ataxia Tethering PCR
Claudia Cagnoli, Alessandro Brussino, Cecilia Mancini, Marina Ferrone, Laura Orsi, Paola Salmin, Patrizia Pappi, Elisa Giorgio, Elisa Pozzi, Simona Cavalieri, Eleonora Di Gregorio, Marta Ferrero, Alessandro Filla, Giuseppe De Michele, Cinzia Gellera, Caterina Mariotti, Suran Nethisinghe, Paola Giunti, Giovanni Stevanin, Alfredo Brusco


Evaluation of Two Commercial Real-Time PCR Kits for Aspergillus DNA Detection in Bronchoalveolar Lavage Fluid in Patients with Invasive Pulmonary Aspergillosis
Julie Denis, Faezeh Forouzanfar, Raoul Herbrecht, Elise Toussaint, Romain Kessler, Marcela Sabou, Ermanno Candolfi, Valérie Letsher-Bru



Rapid, Loop-Mediated Isothermal Amplification Detection of Celiac Disease Risk Alleles
Michael Erlichster, Jason A. Tye-Din, Michael D. Varney, Efstratios Skafidas, Patrick Kwan


An In-Depth Evaluation of the Validity and Logistics Surrounding the Testing of AR-V7 mRNA Expression in Circulating Tumor Cells
Anieta M. Sieuwerts, Bianca Mostert, Michelle van der Vlugt-Daane, Jaco Kraan, Corine M. Beaufort, Mai Van, Wendy J.C. Prager, Bram De Laere, Nick Beije, Paul Hamberg, Hans M. Westgeest, Metin Tascilar, Luc Y. Dirix, Wendy Onstenk, Ronald de Wit, Martijn P. Lolkema, Ron H.J. Mathijssen, John W.M. Martens, Stefan Sleijfer


Optimal Reference Gene Selection for Expression Studies in Human Reticulocytes
Anu Aggarwal, Manu Jamwal, Ganesh K. Viswanathan, Prashant Sharma, ManUpdesh S. Sachdeva, Deepak Bansal, Pankaj Malhotra, Reena Das


A Highly Sensitive and Robust Method for Hepatitis B Virus Covalently Closed Circular DNA Detection in Single Cells and Serum
Jing-Tao Huang, Ying Yang, Yi-Min Hu, Xing-Hui Liu, Mei-Yan Liao, Roy Morgan, Er-Feng Yuan, Xia Li, Song-Mei Liu



Targeted Next-Generation Sequencing Is a Sensitive Tool for Differential Diagnosis of Myelodysplastic Syndromes in Bone Marrow Trephines
Andreas Bräuninger, Wolfgang Blau, Kristin Kunze, Ann-Kathrin Desch, Alexander Brobeil, Mehmet K. Tur, Benjamin Etschmann, Ulrich Günther, Dieter Körholz, Georg Schliesser, Andreas Käbisch, Michael Kiehl, Mathias Rummel, Stefan Gattenlöhner


Validation of a Customized Bioinformatics Pipeline for a Clinical Next-Generation Sequencing Test Targeting Solid Tumor–Associated Variants
Thomas Schneider, Geoffrey H. Smith, Michael R. Rossi, Charles E. Hill, Linsheng Zhang


Deciphering Elevated Microsatellite Alterations at Selected Tetra/Pentanucleotide Repeats, Microsatellite Instability, and Loss of Heterozygosity in Colorectal Cancers
Yang Wang, Cindy L. Vnencak-Jones, Justin M. Cates, Chanjuan Shi


Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)/CRISPR-Associated Endonuclease Cas9–Mediated Homology-Independent Integration for Generating Quality Control Materials for Clinical Molecular Genetic Testing
Guigao Lin, Kuo Zhang, Rongxue Peng, Yanxi Han, Jiehong Xie, Jinming Li


Chimerism Analysis in the Pediatric Setting
Susanne Kricke, Lana Mhaldien, Rozendo Fernandes, Charizel Villanueva, Alistair Shaw, Paul Veys, Stuart Adams


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