The Journal of Molecular Diagnostics: January 2017
Editorial--------------------------------------------------------------------------------
Diagnostic Quality Assurance Pilot
Barbara Zehnbauer, Catherine Lofton-Day, John Pfeifer, Elizabeth Shaughnessy, Lindee Goh
Special Article
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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
Marilyn M. Li, Michael Datto, Eric J. Duncavage, Shashikant Kulkarni, Neal I. Lindeman, Somak Roy, Apostolia M. Tsimberidou, Cindy L. Vnencak-Jones, Daynna J. Wolff, Anas Younes, Marina N. Nikiforova
Review
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Applications of DNA-Based Liquid Biopsy for Central Nervous System Neoplasms
Joanna Wang, Chetan Bettegowda
Mini-Review
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In Silico Proficiency Testing for Clinical Next-Generation Sequencing
Eric J. Duncavage, Haley J. Abel, John D. Pfeifer
Regular Articles
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Clinical Validation of a Next-Generation Sequencing Genomic Oncology Panel via Cross-Platform Benchmarking against Established Amplicon Sequencing Assays
Sabah Kadri, Bradley C. Long, Ibro Mujacic, Chao J. Zhen, Michelle N. Wurst, Shruti Sharma, Nadia McDonald, Nifang Niu, Sonia Benhamed, Jigyasa H. Tuteja, Tanguy Y. Seiwert, Kevin P. White, Megan E. McNerney, Carrie Fitzpatrick, Y. Lynn Wang, Larissa V. Furtado, Jeremy P. Segal
Differences in Microsatellite Instability Profiles between Endometrioid and Colorectal Cancers
Yang Wang, Chanjuan Shi, Rosana Eisenberg, Cindy L. Vnencak-Jones
Validation of a Gene Expression Test for Mesothelioma Prognosis in Formalin-Fixed Paraffin-Embedded Tissues
Assunta De Rienzo, Robert W. Cook, Jeff Wilkinson, Corinne E. Gustafson, Waqas Amin, Clare E. Johnson, Kristen M. Oelschlager, Derek J. Maetzold, John F. Stone, Michael D. Feldman, Michael J. Becich, Beow Y. Yeap, William G. Richards, Raphael Bueno
Methodologic Considerations in the Application of Next-Generation Sequencing of Human TRB Repertoires for Clinical Use
Liwen Xu, Xiaoqing You, PingPing Zheng, Bing M. Zhang, Puja K. Gupta, Philip Lavori, Everett Meyer, James L. Zehnder
Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing
Jonathan A. Nowak, Matthew B. Yurgelun, Jacqueline L. Bruce, Vanesa Rojas-Rudilla, Dimity L. Hall, Priyanka Shivdasani, Elizabeth P. Garcia, Agoston T. Agoston, Amitabh Srivastava, Shuji Ogino, Frank C. Kuo, Neal I. Lindeman, Fei Dong
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia
Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie Raynaud, Jean Gabert
A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma
Cristina Jiménez, María Jara-Acevedo, Luis A. Corchete, David Castillo, Gonzalo R. Ordóñez, María E. Sarasquete, Noemí Puig, Joaquín Martínez-López, María I. Prieto-Conde, María García-Álvarez, María C. Chillón, Ana Balanzategui, Miguel Alcoceba, Albert Oriol, Laura Rosiñol, Luis Palomera, Ana I. Teruel, Juan J. Lahuerta, Joan Bladé, María V. Mateos, Alberto Orfão, Jesús F. San Miguel, Marcos González, Norma C. Gutiérrez, Ramón García-Sanz
PITX2 DNA Methylation as Biomarker for Individualized Risk Assessment of Prostate Cancer in Core Biopsies
Barbara Uhl, Heidrun Gevensleben, Yuri Tolkach, Verena Sailer, Michael Majores, Maria Jung, Sebastian Meller, Johannes Stein, Jörg Ellinger, Dimo Dietrich, Glen Kristiansen
Analytical Validation of Androgen Receptor Splice Variant 7 Detection in a Clinical Laboratory Improvement Amendments (CLIA) Laboratory Setting
Parvez M. Lokhandwala, Stacy L. Riel, Lisa Haley, Changxue Lu, Yan Chen, John Silberstein, Yezi Zhu, Gang Zheng, Ming-Tseh Lin, Christopher D. Gocke, Alan W. Partin, Emmanuel S. Antonarakis, Jun Luo, James R. Eshleman
FOXL2 402C>G Mutation Can Be Identified in the Circulating Tumor DNA of Patients with Adult-Type Granulosa Cell Tumor
Anniina Färkkilä, Melissa K. McConechy, Winnie Yang, Aline Talhouk, Ying Ng, Amy Lum, Ryan D. Morin, Kevin Bushell, Annika Riska, Jessica N. McAlpine, C. Blake Gilks, Leila Unkila-Kallio, Mikko Anttonen, David G. Huntsman
Deamination Effects in Formalin-Fixed, Paraffin-Embedded Tissue Samples in the Era of Precision Medicine
Seokhwi Kim, Charny Park, Yongick Ji, Deok G. Kim, Hyunsik Bae, Michael van Vrancken, Duk-Hwan Kim, Kyoung-Mee Kim
An mRNA Gene Expression–Based Signature to Identify FGFR1-Amplified Estrogen Receptor–Positive Breast Tumors
Jingqin Luo, Shuzhen Liu, Samuel Leung, Alejandro A. Gru, Yu Tao, Jeremy Hoog, Julie Ho, Sherri R. Davies, D. Craig Allred, Andrea L. Salavaggione, Jacqueline Snider, Elaine R. Mardis, Torsten O. Nielsen, Matthew J. Ellis
A Comparison of Cell-Free DNA Isolation Kits
Laure Sorber, Karen Zwaenepoel, Vanessa Deschoolmeester, Geert Roeyen, Filip Lardon, Christian Rolfo, Patrick Pauwels
Application of Single-Molecule Amplification and Resequencing Technology for Broad Surveillance of Plasma Mutations in Patients with Advanced Lung Adenocarcinoma
Zheng Wang, Gang Cheng, Xiaohong Han, Xinlin Mu, Yuhui Zhang, Di Cui, Chang Liu, Li Zhang, Zaiwen Fan, Lingyun Ma, Li Yang, Jing Di, David S. Cram, Yuankai Shi, Dongge Liu
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