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[Journal Club] The Journal of Molecular Diagnostics: November 2019 (Volume 21,Issue 6)

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发表于 2019-10-21 11:36:19 | 显示全部楼层 |阅读模式
Guest Editorials


The Journal of Molecular Diagnostics: 20 Years of Education and Training
Karen L. Kaul

The Journal of Molecular Diagnostics: 20 Years of Clinical Innovation
Timothy J. O'Leary

Editorial


The Journal of Molecular Diagnostics: 20 Years Defining Professional Practice
Barbara A. Zehnbauer

Technical Advances


Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases
Benjamin Kant, Ellen C. Carbo, Iris Kokmeijer, Jelske J.M. Oosterman, Joost Frenkel, Morris A. Swertz, Johannes K. Ploos van Amstel, Juan I. Aróstegui, Marco J. Koudijs, Mariëlle E. van Gijn

Variant Call Format–Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data
Miles C. Benton, Robert A. Smith, Larisa M. Haupt, Heidi G. Sutherland, Paul J. Dunn, Cassie L. Albury, Neven Maksemous, Rodney Lea, Lyn Griffiths

Regular Articles


Prospective Evaluation of the Vela Diagnostics Next-Generation Sequencing Platform for HIV-1 Genotypic Resistance Testing
Jenna Weber, Ilona Volkova, Malaya K. Sahoo, Philip L. Tzou, Robert W. Shafer, Benjamin A. Pinsky

Comparison of in Situ and Extraction-Based Methods for the Detection ofROS1 Rearrangements in Solid Tumors
Carina Heydt, Vanessa Ruesseler, Roberto Pappesch, Svenja Wagener, Anja Haak, Udo Siebolts, Richard Riedel, Sebastian Michels, Juergen Wolf, Anne M. Schultheis, Jan Rehker, Reinhard Buettner, Sabine Merkelbach-Bruse

Interactive Browser-Based Genomics Data Visualization Tools for Translational and Clinical Laboratory Applications
Thomas M. Pearce, Marina N. Nikiforova, Somak Roy

Development and Application of Duplex Sequencing Strategy for Cell-Free DNA–Based Longitudinal Monitoring of Stage IV Colorectal Cancer
Saradhi Mallampati, Stephanie Zalles, Dzifa Y. Duose, Peter C. Hu, L. Jeffrey Medeiros, Ignacio I. Wistuba, Scott Kopetz, Rajyalakshmi Luthra

Multicenter Evaluation of the Fully Automated PCR-Based Idylla EGFR Mutation Assay on Formalin-Fixed, Paraffin-Embedded Tissue of Human Lung Cancer
Solène M. Evrard, Estelle Taranchon-Clermont, Isabelle Rouquette, Samuel Murray, Sebastian Dintner, Yun-Chung Nam-Apostolopoulos, Beatriz Bellosillo, Mar Varela-Rodriguez, Ernest Nadal, Klaus H. Wiedorn, Linea Melchior, Emma Andrew, Mary Jones, Jennifer Ridgway, Christina Frykman, Linda Lind, Mitja Rot, Izidor Kern, Ernst J.M. Speel, Guido M.J.M. Roemen, Nicol Trincheri, Sandra N. Freiberger, Markus Rechsteiner
Open Access
A Zika Reference Panel for Molecular-Based Diagnostic Devices as a US Food and Drug Administration Response Tool to a Public Health Emergency
Mayra García, Rafaelle Fares-Gusmao, Kim Sapsford, Caren Chancey, Andriyan Grinev, Stephen Lovell, Uwe Scherf, Maria Rios
Open Access
Characterization of Reference Materials for Genetic Testing of CYP2D6Alleles: A GeT-RM Collaborative Project
Andrea Gaedigk, Amy Turner, Robin E. Everts, Stuart A. Scott, Praful Aggarwal, Ulrich Broeckel, Gwendolyn A. McMillin, Roberta Melis, Erin C. Boone, Victoria M. Pratt, Lisa V. Kalman

A Novel Next-Generation Sequencing Approach to Detecting Microsatellite Instability and Pan-Tumor Characterization of 1000 Microsatellite Instability–High Cases in 67,000 Patient Samples
Sally E. Trabucco, Kyle Gowen, Sophia L. Maund, Eric Sanford, David A. Fabrizio, Michael J. Hall, Evgeny Yakirevich, Jeffrey P. Gregg, Phil J. Stephens, Garrett M. Frampton, Priti S. Hegde, Vincent A. Miller, Jeffrey S. Ross, Ryan J. Hartmaier, Shih-Min A. Huang, James X. Sun
Open Access
Analytical Comparison of Methods for Extraction of Short Cell-Free DNA from Urine
Amy Oreskovic, Norman D. Brault, Nuttada Panpradist, James J. Lai, Barry R. Lutz

Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel Testing
Ryoji Fujiki, Makoto Ikeda, Osamu Ohara

Phylogenetic Analysis of Trypanosoma cruzi from Pregnant Women and Newborns from Argentina, Honduras, and Mexico Suggests an Association of Parasite Haplotypes with Congenital Transmission of the Parasite
Claudia Herrera, Carine Truyens, Eric Dumonteil, Jackeline Alger, Sergio Sosa-Estani, Maria L. Cafferata, Luz Gibbons, Alvaro Ciganda, Maria L. Matute, Concepcion Zuniga, Yves Carlier, Pierre Buekens

Establishment of Coamplification at Lower Denaturation Temperature PCR/Fluorescence Melting Curve Analysis for Quantitative Detection of Hepatitis B Virus DNA, Genotype, and Reverse Transcriptase Mutation and Its Application in Diagnosis of Chronic Hepatitis B
Can Liu, Jinpiao Lin, Zhen Xun, Jinlan Huang, Er Huang, Tianbin Chen, Yujue He, Ni Lin, Bin Yang, Qishui Ou

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