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[Journal Club] The Journal of Molecular Diagnostics: Mar-2016

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发表于 2016-2-24 08:42:33 | 显示全部楼层 |阅读模式
Special Article
       
A Suggested Molecular Pathology Curriculum for Residents
Dara L. Aisner, Anna Berry, D. Brian Dawson, Randall T. Hayden, Loren Joseph, Charles E. Hill

       
Commentary
       
The Challenges of Applying Massively Parallel Sequencing to Newborn Screening for Cystic Fibrosis
Lawrence M. Silverman
         
Technical Advance
         
A Multiplexed Amplicon Approach for Detecting Gene Fusions by Next-Generation Sequencing
Carol Beadling, Abigail I. Wald, Andrea Warrick, Tanaya L. Neff, Shan Zhong, Yuri E. Nikiforov, Christopher L. Corless, Marina N. Nikiforova

       
Regular Articles
       
Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic Myeloid Leukemia Patients
Mary Alikian, Peter Ellery, Martin Forbes, Gareth Gerrard, Dalia Kasperaviciute, Alona Sosinsky, Michael Mueller, Alexandra S. Whale, Dragana Milojkovic, Jane Apperley, Jim F. Huggett, Letizia Foroni, Alistair G. Reid

       
Quantitative Detection and Resolution of BRAF V600 Status in Colorectal Cancer Using Droplet Digital PCR and a Novel Wild-Type Negative Assay
Roza Bidshahri, Dean Attali, Kareem Fakhfakh, Kelly McNeil, Aly Karsan, Jennifer R. Won, Robert Wolber, Jennifer Bryan, Curtis Hughesman, Charles Haynes

       
Three Rounds of External Quality Assessment in France to Evaluate the Performance of 28 Platforms for Multiparametric Molecular Testing in Metastatic Colorectal and Non-Small Cell Lung Cancer
Elisabeth M.C. Dequeker, Cleo Keppens, Caroline Egele, Sofie Delen, Aude Lamy, Antoinette Lemoine, Jean-Christophe Sabourin, Catherine Andrieu, Marjolijn Ligtenberg, Dominique Fetique, Bastiaan Tops, Clotilde Descarpentries, Hélène Blons, Yves Denoux, Cécile Aube, Frederique Penault-Llorca, Paul Hofman, Karen Leroy, Cédric Le Marechal, Laurent Doucet, Valérie Duranton-Tanneur, Florence Pedeutour, Isabelle Soubeyran, Jean-François Côté, Jean-François Emile, Jean-Michel Vignaud, Nathalie Monhoven, Véronique Haddad, Pierre Laurent-Puig, Han van Krieken, Frederique Nowak, Etienne Lonchamp, Jean-Pierre Bellocq, Etienne Rouleau

       
Identification of Combinatorial Genomic Abnormalities Associated with Prostate Cancer Early Recurrence
Xiaoyu Qu, Claudio Jeldres, Lena Glaskova, Cynthia Friedman, Sarah Schroeder, Peter S. Nelson, Christopher Porter, Min Fang

       
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
Vincenzo Lupo, Francisco García-García, Paula Sancho, Cristina Tello, Mar García-Romero, Liliana Villarreal, Antonia Alberti, Rafael Sivera, Joaquín Dopazo, Samuel I. Pascual-Pascual, Celedonio Márquez-Infante, Carlos Casasnovas, Teresa Sevilla, Carmen Espinós

       
Multiplex Preamplification of Serum DNA to Facilitate Reliable Detection of Extremely Rare Cancer Mutations in Circulating DNA by Digital PCR
Jennifer B. Jackson, Daniel S. Choi, James D. Luketich, Arjun Pennathur, Anders Ståhlberg, Tony E. Godfrey

       
External Quality Assessment for Detection of Fetal Trisomy 21, 18, and 13 by Massively Parallel Sequencing in Clinical Laboratories
Rui Zhang, Hongyun Zhang, Yulong Li, Yanxi Han, Jiehong Xie, Jinming Li

       
Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications
Man Jin Kim, Sung Im Cho, Jong-Hee Chae, Byung Chan Lim, Jee-Soo Lee, Seung Jun Lee, Soo Hyun Seo, Hyunwoong Park, Anna Cho, So Yeon Kim, Ji Yeon Kim, Sung Sup Park, Moon-Woo Seong

       
Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment
Jinglan Zhang, Anastasia Fedick, Stephanie Wasserman, Geping Zhao, Lisa Edelmann, Erwin P. Bottinger, Ruth Kornreich, Stuart A. Scott

       
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis
Martina I. Lefterova, Peidong Shen, Justin I. Odegaard, Eula Fung, Tsoyu Chiang, Gang Peng, Ronald W. Davis, Wenyi Wang, Martin Kharrazi, Iris Schrijver, Curt Scharfe

       
Robust Detection of DNA Hypermethylation of ZNF154 as a Pan-Cancer Locus with in Silico Modeling for Blood-Based Diagnostic Development
Gennady Margolin, Hanna M. Petrykowska, Nader Jameel, Daphne W. Bell, Alice C. Young, Laura Elnitski

       
Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies
Kevin E. Fisher, Linsheng Zhang, Jason Wang, Geoffrey H. Smith, Scott Newman, Thomas M. Schneider, Rathi N. Pillai, Ragini R. Kudchadkar, Taofeek K. Owonikoko, Suresh S. Ramalingam, David H. Lawson, Keith A. Delman, Bassel F. El-Rayes, Malania M. Wilson, H. Clifford Sullivan, Annie S. Morrison, Serdar Balci, N. Volkan Adsay, Anthony A. Gal, Gabriel L. Sica, Debra F. Saxe, Karen P. Mann, Charles E. Hill, Fadlo R. Khuri, Michael R. Rossi

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