The Journal of Molecular Diagnostics: Jul-2015
PerspectivesThe Evolving Role of the Laboratory Professional in the Age of Genome Sequencing
Iris Schrijver, Daniel H. Farkas, Jane S. Gibson, Elaine Lyon
Review
Annotation of Sequence Variants in Cancer Samples
Lobin A. Lee, Kevin J. Arvai, Dan Jones
Technical Advance
Toward Rare Blood Cell Preservation for RNA Sequencing
Sanja Vickovic, Afshin Ahmadian, Rolf Lewensohn, Joakim Lundeberg
Regular Articles
The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform
Kristin K. Deeb, James D. Metcalf, Kaitlin M. Sesock, Junqing Shen, Christine A. Wensel, Larisa I. Rippel, Michelle Smith, Mark S. Chapman, Shulin Zhang
Next-Generation Genotyping by Digital PCR to Detect and Quantify the BRAF V600E Mutation in Melanoma Biopsies
Pierre-Jean Lamy, Florence Castan, Nicolas Lozano, Cécile Montélion, Patricia Audran, Frédéric Bibeau, Sylvie Roques, Frédéric Montels, Anne-Claire Laberenne
Comparing Platforms for Messenger RNA Expression Profiling of Archival Formalin-Fixed, Paraffin-Embedded Tissues
Svitlana Tyekucheva, Neil E. Martin, Edward C. Stack, Wei Wei, Vinod Vathipadiekal, Levi Waldron, Michelangelo Fiorentino, Rosina T. Lis, Meir J. Stampfer, Massimo Loda, Giovanni Parmigiani, Lorelei A. Mucci, Michael Birrer
Development of a Quantitative Real-Time RT-PCR Assay for the Detection of MAGE-A3–Positive Tumors
Olivier Gruselle, Thierry Coche, Jamila Louahed
Multiple Endonuclease Restriction Real-Time Loop-Mediated Isothermal Amplification
Yi Wang, Yan Wang, Ruiting Lan, Huaqing Xu, Aijing Ma, Dongxun Li, Hang Dai, Xuejiao Yuan, Jianguo Xu, Changyun Ye
QuantiGene Plex Represents a Promising Diagnostic Tool for Cell-of-Origin Subtyping of Diffuse Large B-Cell Lymphoma
John S. Hall, Suzanne Usher, Richard J. Byers, Rebekah C. Higgins, Danish Memon, John A. Radford, Kim M. Linton
Evaluation of Mutational Testing of Preneoplastic Barrett's Mucosa by Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Endoscopic Samples for Detection of Concurrent Dysplasia and Adenocarcinoma in Barrett's Esophagus
Armando Del Portillo, Stephen M. Lagana, Yuan Yao, Takeshi Uehara, Nirag Jhala, Tapan Ganguly, Peter Nagy, Jorge Gutierrez, Aesis Luna, Julian Abrams, Yang Liu, Randall Brand, Jorge L. Sepulveda, Gary W. Falk, Antonia R. Sepulveda
A Variant Detection Pipeline for Inherited Cardiomyopathy–Associated Genes Using Next-Generation Sequencing
Théo G.M. Oliveira, Miguel Mitne-Neto, Louise T. Cerdeira, Julia D.C. Marsiglia, Edmundo Arteaga-Fernandez, José E. Krieger, Alexandre C. Pereira
Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules
Kyung Sun Park, Young L. Oh, Chang-Seok Ki, Jong-Won Kim
Analytical Performance of a 15-Gene Prognostic Assay for Early-Stage Non–Small-Cell Lung Carcinoma Using RNA-Stabilized Tissue
Shuguang Huang, Nicholas J. Reitze, Amy L. Ewing, Suzanne McCreary, Arlette H. Uihlein, Stacey L. Brower, Dakun Wang, Tianhua Wang, Michael J. Gabrin, Katherine E. Keating, Jude Mulligan, Claire Wilson, Timothy Davison, Stuart McKenzie, Ming-Sound Tsao, Frances A. Shepherd, Victoria Plamadeala
Evaluation of HER2 Gene Status in Breast Cancer Samples with Indeterminate Fluorescence in Situ Hybridization by Quantitative Real-Time PCR
Vladimira Koudelakova, Jitka Berkovcova, Radek Trojanec, Jana Vrbkova, Lenka Radova, Jiri Ehrmann, Zdenek Kolar, Bohuslav Melichar, Marian Hajduch
Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing
Linnea M. Baudhuin, Susan A. Lagerstedt, Eric W. Klee, Numrah Fadra, Devin Oglesbee, Matthew J. Ferber
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