The Journal of Molecular Diagnostics: Sep-2016

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The Journal of Molecular Diagnostics: Sep-2016 (Volume 18, Issue 5)
Special Article

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  The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer
Loren Joseph, Milena Cankovic, Samuel Caughron, Pranil Chandra, Rajyasree Emmadi, Jill Hagenkord, Stephanie Hallam, Kay E. Jewell, Roger D. Klein, Victoria M. Pratt, Paul G. Rothberg, Robyn L. Temple-Smolkin, Elaine Lyon

  Review

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  Recent Advances on the Molecular Pathology of Glial Neoplasms in Children and Adults
Fausto J. Rodriguez, M. Adelita Vizcaino, Ming-Tseh Lin

  Commentary

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  Clinical Validity and Utility
Daniel H. Farkas

  Technical Advances

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  Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients
Loralie J. Langman, Lior Nesher, Dimpy P. Shah, Jacques M. Azzi, Elizabeth J. Shpall, Katy Rezvani, John L. Black III, Roy F. Chemaly

  Development and Validation of a Template-Independent Next-Generation Sequencing Assay for Detecting Low-Level Resistance-Associated Variants of Hepatitis C Virus
Bo Wei, John Kang, Miho Kibukawa, Lei Chen, Ping Qiu, Fred Lahser, Matthew Marton, Diane Levitan
Open Access   
  Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis
Laila C. Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J. Howlett, Anthony C. Rupar, Joan H.M. Knoll, Peter Ainsworth, John S. Waye, Bekim Sadikovic

  Regular Articles

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  Performance Characteristics and Validation of Next-Generation Sequencing for Human Leucocyte Antigen Typing
Eric T. Weimer, Maureen Montgomery, Rosanne Petraroia, John Crawford, John L. Schmitz

  Comprehensive Screening of Gene Copy Number Aberrations in Formalin-Fixed, Paraffin-Embedded Solid Tumors Using Molecular Inversion Probe–Based Single-Nucleotide Polymorphism Array
Rajesh R. Singh, Meenakshi Mehrotra, Hui Chen, Alaa A. Almohammedsalim, Ayesagul Sahin, Alex Bosamra, Keyur P. Patel, Mark J. Routbort, Xinyan Lu, Abraham Ronald, Bal Mukund Mishra, Shumaila Virani, L. Jeffrey Medeiros, Rajyalakshmi Luthra

  Reality of Single Circulating Tumor Cell Sequencing for Molecular Diagnostics in Pancreatic Cancer
Colin M. Court, Jacob S. Ankeny, Shonan Sho, Shuang Hou, Qingyu Li, Carolyn Hsieh, Min Song, Xinfang Liao, Matthew M. Rochefort, Zev A. Wainberg, Thomas G. Graeber, Hsian-Rong Tseng, James S. Tomlinson

  Health Care Infrastructure for Financially Sustainable Clinical Genomics
Jochen K. Lennerz, Heather M. McLaughlin, Jason M. Baron, David Rasmussen, Meini Sumbada Shin, Nancy Berners-Lee, Julie Miller Batten, Kathryn J. Swoboda, Manish K. Gala, Harland S. Winter, Jeremy D. Schmahmann, David A. Sweetser, Marianne Boswell, Maciej Pacula, Albrecht Stenzinger, Long P. Le, William Hynes, Heidi L. Rehm, Anne Klibanski, Stephen W. Black-Schaffer, Jeffrey A. Golden, David N. Louis, Scott T. Weiss, A. John Iafrate

  Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation
Graham W. Magor, Michael R. Tallack, Nathan M. Klose, Debra Taylor, Darren Korbie, Peter Mollee, Matt Trau, Andrew C. Perkins

  Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis
Indhu-Shree Rajan-Babu, Mulias Lian, Anh H. Tran, Truong T. Dang, Huong T.-M. Le, Minh N. Thanh, Caroline G. Lee, Samuel S. Chong

  Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies
Melissa Alame, Delphine Lacourt, Reda Zenagui, Déborah Mechin, Fabienne Danton, Michel Koenig, Mireille Claustres, Mireille Cossée

  Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy
Yu-jin Qu, Jin-li Bai, Yan-yan Cao, Hong Wang, Yu-wei Jin, Juan Du, Xiu-shan Ge, Wen-hui Zhang, Yan Li, Sheng-xi He, Fang Song

  Certified DNA Reference Materials to Compare HER2 Gene Amplification Measurements Using Next-Generation Sequencing Methods
Chih-Jian Lih, Han Si, Biswajit Das, Robin D. Harrington, Kneshay N. Harper, David J. Sims, Paul M. McGregor, Corinne E. Camalier, Andrew Y. Kayserian, P. Mickey Williams, Hua-Jun He, Jamie L. Almeida, Steve P. Lund, Steve Choquette, Kenneth D. Cole
Open Access   
  A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X–Related Disorders
Bruce E. Hayward, Yifan Zhou, Daman Kumari, Karen Usdin

  Diagnostic Detection of Allelic Losses and Imbalances by Next-Generation Sequencing
Hendrikus J. Dubbink, Peggy N. Atmodimedjo, Ronald van Marion, Niels M.G. Krol, Peter H.J. Riegman, Johan M. Kros, Martin J. van den Bent, Winand N.M. Dinjens