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[Journal Club] The Journal of Molecular Diagnostics: September 2019 (Volume 21,Issue 5)









Rank: 9Rank: 9Rank: 9Rank: 9

发表于 2019-8-21 12:42:15 | 显示全部楼层 |阅读模式

Integration Standardization and Diagnostics Oversight of Laboratory Testing
Barbara Zehnbauer


Diagnostics Reform and Harmonization of Clinical Laboratory Testing
Jeff Schreier, Robert Feeney, Peter Keeling
Open Access

Special Article

Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists
Victoria M. Pratt, Larisa H. Cavallari, Andria L. Del Tredici, Houda Hachad, Yuan Ji, Ann M. Moyer, Stuart A. Scott, Michelle Whirl-Carrillo, Karen E. Weck


Preanalytic Variables and Tissue Stewardship for Reliable Next-Generation Sequencing (NGS) Clinical Analysis
Paolo A. Ascierto, Carlo Bifulco, Giuseppe Palmieri, Solange Peters, Nikoletta Sidiropoulos
Open Access

Regular Articles

Broad-Range Papillomavirus Transcriptome as a Biomarker of Papillomavirus-Associated Cervical High-Grade Cytology
Philippe Pérot, Anne Biton, Jacques Marchetta, Anne-Gaelle Pourcelot, André Nazac, Henri Marret, Thomas Hébert, Delphine Chrétien, Marie-Christine Demazoin, Michaël Falguières, Laurence Arowas, Hélène Laude, Isabelle Heard, Marc Eloit

A Rapid Allele-Specific Assay for HLA-A*32:01 to Identify Patients at Risk for Vancomycin-Induced Drug Reaction with Eosinophilia and Systemic Symptoms
Francois X. Rwandamuriye, Abha Chopra, Katherine C. Konvinse, Linda Choo, Jason A. Trubiano, Christian M. Shaffer, Mark Watson, Simon A. Mallal, Elizabeth J. Phillips

The Optimal Sequencing Depth of Tumor Biopsies for Identifying Clonal Cell Populations
Siavosh Tabatabaeifar, Martin J. Larsen, Mads Thomassen, Stine R. Larsen, Torben A. Kruse, Jens A. Sørensen

Reliable Gene Expression Profiling from Small and Hematoxylin and Eosin–Stained Clinical Formalin-Fixed, Paraffin-Embedded Specimens Using the HTG EdgeSeq Platform
Zhenhao Qi, Lisu Wang, Keyur Desai, John Cogswell, Mark Stern, Byron Lawson, Sid P. Kerkar, Patrik Vitazka

MammaPrint and BluePrint Molecular Diagnostics Using Targeted RNA Next-Generation Sequencing Technology
Lorenza Mittempergher, Leonie J.M.J. Delahaye, Anke T. Witteveen, Jacob B. Spangler, Fariet Hassenmahomed, Sammy Mee, Soufiane Mahmoudi, Jiang Chen, Simon Bao, Mireille H.J. Snel, Sandra Leidelmeijer, Naomi Besseling, Anne Bergstrom Lucas, Carlos Pabón-Peña, Sabine C. Linn, Christa Dreezen, Diederik Wehkamp, Bob Y. Chan, René Bernards, Laura J. van 't Veer, Annuska M. Glas
Open Access

Genome Mining–Based Identification of Identical Multirepeat Sequences in Plasmodium falciparum Genome for Highly Sensitive Real-Time Quantitative PCR Assay and Its Application in Malaria Diagnosis
Lolabattu S. Raju, Shwetha Kamath, Manjunatha C. Shetty, Sanghamitra Satpathi, Akshaya K. Mohanty, Susanta K. Ghosh, Nikunja Kolluri, Catherine M. Klapperich, Mario Cabodi, Govindarajan Padmanaban, Viswanathan A. Nagaraj

Proof of Concept for a Portable Platform for Molecular Diagnosis of Tropical Diseases: On-Chip Ready-to-Use Real-Time Quantitative PCR for Detection of Trypanosoma cruzi or Plasmodium spp.
Rita C.P. Rampazzo, Ana Cláudia Graziani, Keren K. Leite, Jhully Anni Surdi, Cheysa A. Biondo, Maykon L.N. Costa, Thiago Jacomasso, Marco Cereda, Marco De Fazio, Marco A. Bianchessi, Otacílio C. Moreira, Constança Britto, Joana D.N. Costa, Viviane M. Góes, Alexandre J. da Silva, Marco A. Krieger, Alexandre D.T. Costa

Resolving MiSeq-Generated Ambiguities in HLA-DPB1 Typing by Using the Oxford Nanopore Technology
Jamie L. Duke, Timothy L. Mosbruger, Deborah Ferriola, Nilesh Chitnis, Taishan Hu, Nikolaos Tairis, David J. Margolis, Dimitri S. Monos

Evaluation, Validation, and Implementation of the Idylla System as Rapid Molecular Testing for Precision Medicine
Huiya Huang, Stephanie Springborn, Kiefer Haug, Kaitlyn Bartow, Hasan Samra, Smitha Menon, Alexander C. Mackinnon

Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers
Fengqi Chang, Fumin Lin, Kajia Cao, Lea F. Surrey, Richard Aplenc, Rochelle Bagatell, Adam C. Resnick, Mariarita Santi, Phillip B. Storm, Sarah K. Tasian, Angela J. Waanders, Stephen P. Hunger, Marilyn M. Li

PipeIT: A Singularity Container for Molecular Diagnostic Somatic Variant Calling on the Ion Torrent Next-Generation Sequencing Platform
Andrea Garofoli, Viola Paradiso, Hesam Montazeri, Philip M. Jermann, Guglielmo Roma, Luigi Tornillo, Luigi M. Terracciano, Salvatore Piscuoglio, Charlotte K.Y. Ng

Optimized (Pre) Analytical Conditions and Workflow for Droplet Digital PCR Analysis of Cell-Free DNA from Patients with Suspected Lung Carcinoma
Remco de Kock, Birgit Deiman, Raisa Kraaijvanger, Volkher Scharnhorst

Optimization of Population Frequency Cutoffs for Filtering Common Germline Polymorphisms from Tumor-Only Next-Generation Sequencing Data
Samantha N. McNulty, Bijal A. Parikh, Eric J. Duncavage, Jonathan W. Heusel, John D. Pfeifer

Validation and Retrospective Clinical Evaluation of a Quantitative 16S rRNA Gene Metagenomic Sequencing Assay for Bacterial Pathogen Detection in Body Fluids
Karissa Culbreath, Suzanne Melanson, James Gale, Justin Baker, Fan Li, Oystein Saebo, Oyvind Kommedal, Deisy Contreras, Omai B. Garner, Shangxin Yang

High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia
Qizong Lao, Brittany Brookner, Deborah P. Merke

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