The Journal of Molecular Diagnostics: March 2020 (Volume 22,Issue 3)
CommentaryDiagnosing Bacteremia in Real Time Using Next-Generation Sequencing–Based Technology
Charles W. Stratton, Yi-Wei Tang
Regular Articles
Junction Location Identifier (JuLI): Accurate Detection of DNA Fusions in Clinical Sequencing for Precision Oncology
Hyun-Tae Shin, Nayoung K.D. Kim, Jae Won Yun, Boram Lee, Sungkyu Kyung, Ki-Wook Lee, Daeun Ryu, Jinho Kim, Joon Seol Bae, Donghyun Park, Yoon-La Choi, Se-Hoon Lee, Myung-Ju Ahn, Keunchil Park, Woong-Yang Park
Open Access
Preanalytical Variables for the Genomic Assessment of the Cellular and Acellular Fractions of the Liquid Biopsy in a Cohort of Breast Cancer Patients
Stephanie N. Shishido, Lisa Welter, Mariam Rodriguez-Lee, Anand Kolatkar, Liya Xu, Carmen Ruiz, Anna S. Gerdtsson, Sara Restrepo-Vassalli, Anders Carlsson, Joe Larsen, Emily J. Greenspan, E. Shelley Hwang, Kathryn R. Waitman, Jorge Nieva, Kelly Bethel, James Hicks, Peter Kuhn
Molecular Discordance between Myeloid Sarcomas and Concurrent Bone Marrows Occurs in Actionable Genes and Is Associated with Worse Overall Survival
Brian Werstein, Jennifer Dunlap, Michael J. Cascio, Robert S. Ohgami, Guang Fan, Richard Press, Philipp W. Raess
Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System
Stacey Lee, Jennifer L. Taylor, Charles Redmond, Andrew G. Hadd, Jon A. Kemppainen, Brian C. Haynes, Scott Shone, Donald B. Bailey Jr., Gary J. Latham
Development and Analytical Validation of an Expanded Mutation Detection Panel for Next-Generation Sequencing of Thyroid Nodule Aspirates
Kenny K. Ablordeppey, Venkata A. Timmaraju, Joanna W. Song-Yang, Sharon Yaqoob, Christina Narick, Alidad Mireskandari, Sydney D. Finkelstein, Gyanendra Kumar
Open Access
Reliable Clinical MLH1 Promoter Hypermethylation Assessment Using a High-Throughput Genome-Wide Methylation Array Platform
Jamal K. Benhamida, Jaclyn F. Hechtman, Khedoudja Nafa, Liliana Villafania, Justyna Sadowska, Jiajing Wang, Donna Wong, Ahmet Zehir, Liying Zhang, Tejus Bale, Maria E. Arcila, Marc Ladanyi
Validation of an in Vitro Mismatch Repair Assay Used in the Functional Characterization of Mismatch Repair Variants
Maribel González-Acosta, Inga Hinrichsen, Anna Fernández, Conxi Lázaro, Marta Pineda, Guido Plotz, Gabriel Capellá
Clinical Performance of the Idylla MSI Test for a Rapid Assessment of the DNA Microsatellite Status in Human Colorectal Cancer
Karen Zwaenepoel, Julie Holmgaard Duelund, Koen De Winne, Vincent Maes, Christine Weyn, Suzan Lambin, Robina Dendooven, Glenn Broeckx, Torben Steiniche, Patrick Pauwels
Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing
Jessica L. Mester, Sarah A. Jackson, Kristen Postula, Amy Stettner, Sheila Solomon, Jeffrey Bissonnette, Patricia D. Murphy, Rachel T. Klein, Kathleen S. Hruska
Rapid Next-Generation Sequencing–Based Diagnostics of Bacteremia in Septic Patients
Christian Grumaz, Anne Hoffmann, Yevhen Vainshtein, Maria Kopp, Silke Grumaz, Philip Stevens, Sebastian O. Decker, Markus A. Weigand, Stefan Hofer, Thorsten Brenner, Kai Sohn
Open Access
An Isothermal, Multiplex Amplification Assay for Detection and Genotyping of Human Papillomaviruses in Formalin-Fixed, Paraffin-Embedded Tissues
Yi-Wei Tang, Lorena Lozano, Xin Chen, Troy D. Querec, Nora Katabi, Antonio Moreno-Docón, Hongmei Wang, Daniel Fix, Louise De Brot, Tracy A. McMillen, Ju-Yoon Yoon, Amparo Torroba, Youxiang Wang, Elizabeth R. Unger, Kay J. Park
Low-Pass Whole-Genome Sequencing as a Method of Determining Copy Number Variations in Uveal Melanoma Tissue Samples
Aaron B. Beasley, Jacqueline Bentel, Richard J.N. Allcock, Tersia Vermeulen, Leslie Calapre, Timothy Isaacs, Melanie R. Ziman, Fred K. Chen, Elin S. Gray
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