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[Journal Club] The Journal of Molecular Diagnostics: March 2019 (Volume 21, Issue2)

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发表于 2019-2-28 11:18:48 | 显示全部楼层 |阅读模式
Review



Molecular Pathology of Bone Tumors
Suk Wai Lam, David G.P. van IJzendoorn, Anne-Marie Cleton-Jansen, Karoly Szuhai, Judith V.M.G. Bovée


Commentary



Targeted RNA Sequencing in Non–Small Cell Lung Cancer
Lauren L. Ritterhouse


Technical Advances



A Novel Approach to Detect Programed Death Ligand 1 (PD-L1) Status and Multiple Tumor Mutations Using a Single Non–Small-Cell Lung Cancer (NSCLC) Bronchoscopy Specimen
Amanda Vannitamby, Shona Hendry, Tanvi Makadia, Janine Danks, John Slavin, Louis Irving, Daniel Steinfort, Steven Bozinovski
Open Access

Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity Testing
Christina Grimm, Axel Fischer, Angela M. Farrelly, Roshni Kalachand, Roberta Castiglione, Elena Wasserburger, Michelle Hussong, Anne M. Schultheis, Janine Altmüller, Holger Thiele, H. Christian Reinhardt, Kai Hauschulz, Bryan T. Hennessy, Ralf Herwig, Matthias Lienhard, Reinhard Buettner, Michal R. Schweiger


Regular Articles



A Novel Multiplex Droplet Digital PCR Assay to Identify and Quantify KRAS Mutations in Clinical Specimens
Miguel Alcaide, Matthew Cheung, Kevin Bushell, Sarah E. Arthur, Hui-Li Wong, Joanna Karasinska, Daniel Renouf, David F. Schaeffer, Suzan McNamara, Mathilde Couetoux du Tertre, Gerald Batist, Hagen F. Kennecke, Aly Karsan, Ryan D. Morin


Clinical Utility of a Next-Generation Sequencing Panel for Acute Myeloid Leukemia Diagnostics
Carmen M. Alonso, Marta Llop, Claudia Sargas, Laia Pedrola, Joaquín Panadero, David Hervás, José Cervera, Esperanza Such, Mariam Ibáñez, Rosa Ayala, Joaquín Martínez-López, Esther Onecha, Inmaculada de Juan, Sarai Palanca, David Martínez-Cuadrón, Rebeca Rodríguez-Veiga, Blanca Boluda, Pau Montesinos, Guillermo Sanz, Miguel A. Sanz, Eva Barragán


Mutation Burden and I Index for Detection of Microsatellite Instability in Colorectal Cancer by Targeted Next-Generation Sequencing
Jeong E. Kim, Sung-Min Chun, Yong S. Hong, Kyu-pyo Kim, Sun Y. Kim, Jihun Kim, Chang Ohk Sung, Eun J. Cho, Tae W. Kim, Se Jin Jang


Optimizing a Metatranscriptomic Next-Generation Sequencing Protocol for Bronchoalveolar Lavage Diagnostics
Weihua Huang, Changhong Yin, Guiqing Wang, Jeremy Rosenblum, Sankaran Krishnan, Nevenka Dimitrova, John T. Fallon


Somatic Tumor Variant Filtration Strategies to Optimize Tumor-Only Molecular Profiling Using Targeted Next-Generation Sequencing Panels
Mahadeo A. Sukhai, Maksym Misyura, Mariam Thomas, Swati Garg, Tong Zhang, Natalie Stickle, Carl Virtanen, Philippe L. Bedard, Lillian L. Siu, Tina Smets, Gert Thijs, Steven Van Vooren, Suzanne Kamel-Reid, Tracy L. Stockley


Development of Novel Mutation-Specific Droplet Digital PCR Assays Detecting TERT Promoter Mutations in Tumor and Plasma Samples
Broderick C. Corless, Gregory A. Chang, Samantha Cooper, Mahrukh M. Syeda, Yongzhao Shao, Iman Osman, George Karlin-Neumann, David Polsky


Rapid and Sensitive Detection of Azole-Resistant Aspergillus fumigatus by Tandem Repeat Loop-Mediated Isothermal Amplification
Ling-Shan Yu, Jesus Rodriguez-Manzano, Kenny Malpartida-Cardenas, Thomas Sewell, Oliver Bader, Darius Armstrong-James, Matthew C. Fisher, Pantelis Georgiou


Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in >15,000 Germline DNA Screens
Dale Muzzey, Shera Kash, Jillian I. Johnson, Laura M. Melroy, Piotr Kaleta, Kelly A. Pierce, Kaylene Ready, Hyunseok P. Kang, Kevin R. Haas
Open Access

Next-Generation Sequencing–Based Assessment of JAK2, PD-L1, and PD-L2 Copy Number Alterations at 9p24.1 in Breast Cancer: Potential Implications for Clinical Management
Sounak Gupta, Chad M. Vanderbilt, Paolo Cotzia, Javier A. Arias-Stella III, Jason C. Chang, Ahmet Zehir, Ryma Benayed, Khedouja Nafa, Pedram Razavi, David M. Hyman, José Baselga, Michael F. Berger, Marc Ladanyi, Maria E. Arcila, Dara S. Ross


A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing
Stephen E. Lincoln, Rebecca Truty, Chiao-Feng Lin, Justin M. Zook, Joshua Paul, Vincent H. Ramey, Marc Salit, Heidi L. Rehm, Robert L. Nussbaum, Matthew S. Lebo
Open Access

Establishment of Immunoglobulin Heavy (IGH) Chain Clonality Testing by Next-Generation Sequencing for Routine Characterization of B-Cell and Plasma Cell Neoplasms
Maria E. Arcila, Wayne Yu, Mustafa Syed, Hannah Kim, Lidia Maciag, JinJuan Yao, Caleb Ho, Kseniya Petrova, Christine Moung, Paulo Salazar, Ivelise Rijo, Tessara Baldi, Ahmet Zehir, Ola Landgren, Jae Park, Mikhail Roshal, Ahmet Dogan, Khedoudja Nafa


t(3;8)(q26.2;q24) Often Leads to MECOM/MYC Rearrangement and Is Commonly Associated with Therapy-Related Myeloid Neoplasms and/or Disease Progression
Guilin Tang, Shimin Hu, Sa A. Wang, Wei Xie, Pei Lin, Jie Xu, Gokce Toruner, Ming Zhao, Jun Gu, Madison Doty, Shaoying Li, L. Jeffrey Medeiros, Zhenya Tang


Design, Optimization, and Multisite Evaluation of a Targeted Next-Generation Sequencing Assay System for Chimeric RNAs from Gene Fusions and Exon-Skipping Events in Non–Small Cell Lung Cancer
Richard A. Blidner, Brian C. Haynes, Stephen Hyter, Sarah Schmitt, Ziyan Y. Pessetto, Andrew K. Godwin, Dan Su, Patrick Hurban, Léon C. van Kempen, Maria L. Aguirre, Shobha Gokul, Robyn D. Cardwell, Gary J. Latham


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