The Journal of Molecular Diagnostics: Jul-2016

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Commentary

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  Next-Generation Proficiency Testing
Jeremy P. Segal



  Regular Articles

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Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing
Gemma Armengol, Virinder K. Sarhadi, Reza Ghanbari, Masoud Doghaei-Moghaddam, Reza Ansari, Masoud Sotoudeh, Pauli Puolakkainen, Arto Kokkola, Reza Malekzadeh, Sakari Knuutila

  A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families
Wenhui L. Li, Jonathan Buckley, Pedro A. Sanchez-Lara, Dennis T. Maglinte, Lucy Viduetsky, Tatiana V. Tatarinova, Jennifer G. Aparicio, Jonathan W. Kim, Margaret Au, Dejerianne Ostrow, Thomas C. Lee, Maurice O'Gorman, Alexander Judkins, David Cobrinik, Timothy J. Triche

  Accurate Sample Assignment in a Multiplexed, Ultrasensitive, High-Throughput Sequencing Assay for Minimal Residual Disease
Jack Bartram, Edward Mountjoy, Tony Brooks, Jeremy Hancock, Helen Williamson, Gary Wright, John Moppett, Nick Goulden, Mike Hubank

  Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies
Michael J. Kluk, R. Coleman Lindsley, Jon C. Aster, Neal I. Lindeman, David Szeto, Dimity Hall, Frank C. Kuo

  Molecular Cytogenetic Analysis of JAZF1, PHF1, and YWHAE in Endometrial Stromal Tumors
Jennelle C. Hodge, Patrick P. Bedroske, Kathryn E. Pearce, William R. Sukov

  Comparative Evaluation of Four Real-Time PCR Methods for the Quantitative Detection of Epstein-Barr Virus from Whole Blood Specimens
Daelynn Buelow, Yilun Sun, Li Tang, Zhengming Gu, Stanley Pounds, Randall Hayden

  Detection of Colorectal Cancer Using a Simplified SEPT9 Gene Methylation Assay Is a Reliable Method for Opportunistic Screening
Dong Wu, Guangpeng Zhou, Peng Jin, Jiqing Zhu, Shijie Li, Qi Wu, Guiqi Wang, Jianqiu Sheng, Jianming Wang, Lele Song, Xiaoliang Han, Jiaming Qian

  Hybridization-Induced Aggregation Technology for Practical Clinical Testing
Hillary S. Sloane, James P. Landers, Kimberly A. Kelly

  The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis
Marco Lucarelli, Sabina M. Bruno, Silvia Pierandrei, Giampiero Ferraguti, Giancarlo Testino, Gessica Truglio, Roberto Strom, Serena Quattrucci

  Development and Validation of a Mass Spectrometry–Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease
Brendan Blumenstiel, Matthew DeFelice, Ozge Birsoy, Anthony J. Bleyer, Stanislav Kmoch, Todd A. Carter, Andreas Gnirke, Kendrah Kidd, Heidi L. Rehm, Lucienne Ronco, Eric S. Lander, Stacey Gabriel, Niall J. Lennon
Open Access   
  Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation
Kurtis D. Davies, Midhat S. Farooqi, Mike Gruidl, Charles E. Hill, Julie Woolworth-Hirschhorn, Heather Jones, Kenneth L. Jones, Anthony Magliocco, Midori Mitui, Philip H. O'Neill, Rebecca O'Rourke, Nirali M. Patel, Dahui Qin, Erica Ramos, Michael R. Rossi, Thomas M. Schneider, Geoffrey H. Smith, Linsheng Zhang, Jason Y. Park, Dara L. Aisner

  Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel
Ava Kwong, Vivian Y. Shin, Chun H. Au, Fian B.F. Law, Dona N. Ho, Bui K. Ip, Anthony T.C. Wong, Silvia S. Lau, Rene M.Y. To, Gigi Choy, James M. Ford, Edmond S.K. Ma, Tsun L. Chan

  Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma
Yunhong Wang, Sue Miller, Diane Roulston, Dale Bixby, Lina Shao
Open Access