The Journal of Molecular Diagnostics: January 2019 (Volume 21,Issue 1)

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Editorial

Translating Risk of Consumer-Initiated Genetic Testing
Barbara Zehnbauer
p1–2
Published in issue: January 2019

Perspectives

Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing
James T. Lu, Matthew Ferber, Jill Hagenkord, Elissa Levin, Sarah South, Hyunseok P. Kang, Kimberly A. Strong, David P. Bick
p3–12
Published online: November 16, 2018

Commentaries

Expedited Analysis and Reporting of Multiple Mutations that Modify Medical Management of Myeloid Malignancies: It's About (Turnaround) Time!
Michael J. Kluk, Adam Bagg
p13–15
Published online: October 19, 2018


CME Program ArticleThe Next Generation in Detection of Leukemia-Associated Translocations
Daniel E. Sabath
p16–18
Published online: September 27, 2018

Technical Advances

insiM: in silico Mutator Software for Bioinformatics Pipeline Validation of Clinical Next-Generation Sequencing Assays
Sushant A. Patil, Ibro Mujacic, Lauren L. Ritterhouse, Jeremy P. Segal, Sabah Kadri
p19–26
Published online: September 28, 2018


Optimized Digital Droplet PCR for BCR-ABL
Jacqueline Maier, Thoralf Lange, Michael Cross, Kathrin Wildenberger, Dietger Niederwieser, Georg-Nikolaus Franke
p27–37
Published online: October 19, 2018

Regular Articles

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth H. Denenberg, Elizabeth T. DeChene, Alisha B. Wilkens, Elizabeth J. Bhoj, Qiaoning Guan, Matthew C. Dulik, Laura K. Conlin, Ahmad N. Abou Tayoun, Minjie Luo, Chao Wu, Kajia Cao, Mahdi Sarmady, Emma C. Bedoukian, Jennifer Tarpinian, Livija Medne, Cara M. Skraban, Matthew A. Deardorff, Ian D. Krantz, Bryan L. Krock, Avni B. Santani
p38–48
Published in issue: January 2019
Open Access


Rapid Next-Generation Sequencing Method for Prediction of Prostate Cancer Risks
Viacheslav Y. Fofanov, Kinnari Upadhyay, Alexander Pearlman, Johnny Loke, Vivian O, Yongzhao Shao, Stephen Freedland, Harry Ostrer
p49–57
Published online: December 12, 2018


A Nanopore Sequencing–Based Assay for Rapid Detection of Gene Fusions
William R. Jeck, Jesse Lee, Hayley Robinson, Long P. Le, A. John Iafrate, Valentina Nardi
p58–69
Published online: September 28, 2018


CME Program ArticleScreening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients
Jenny L. Kerschner, Sujana Ghosh, Alekh Paranjapye, Wilmel R. Cosme, Marie-Pierre Audrézet, Miyuki Nakakuki, Hiroshi Ishiguro, Claude Férec, Johanna Rommens, Ann Harris
p70–80
Published online: October 5, 2018


An Innovative Multiplexed and Flexible Molecular Approach for the Differential Detection of Arboviruses
Fanny Leon, Albert Meyer, Robin Reynier, Emilie Blanc, Lilian Bruyère-Ostells, Jean-Charles Brès, Yannick Simonin, Sara Salinas, Pierre Gallian, Isabelle Leparc-Goffart, Antoine Biron, Myrielle Dupont-Rouzeyrol, François Morvan, Jean-Jacques Vasseur, Vincent Foulongne, Philippe Van de Perre, Jean-François Cantaloube, Chantal Fournier-Wirth
p81–88
Published online: September 27, 2018


Ultra-Rapid Reporting of GENomic Targets (URGENTseq): Clinical Next-Generation Sequencing Results within 48 Hours of Sample Collection
Keyur P. Patel, Roberto Ruiz-Cordero, Wei Chen, Mark J. Routbort, Kristen Floyd, Sergio Rodriguez, John Galbincea, Bedia A. Barkoh, David Hatfield, Haitham Khogeer, Rashmi Kanagal-Shamanna, C. Cameron Yin, Zhuang Zuo, Sanam Loghavi, Chi Young Ok, Courtney D. DiNardo, Rajyalakshmi Luthra, L. Jeffrey Medeiros
p89–98
Published in issue: January 2019


Diagnostic targETEd seQuencing adjudicaTion (DETEQT): Algorithms for Adjudicating Targeted Infectious Disease Next-Generation Sequencing Panels
Turner A. Conrad, Chien-Chi Lo, Jeffrey W. Koehler, Amanda S. Graham, Christopher P. Stefan, Adrienne T. Hall, Christina E. Douglas, Patrick S. Chain, Timothy D. Minogue
p99–110
Published online: September 27, 2018


A Single-Tube, EuroClonality-Inspired, TRG Clonality Multiplex PCR Aids Management of Patients with Enteropathic Diseases, including from Formaldehyde-Fixed, Paraffin-Embedded Tissues
Coralie Derrieux, Amélie Trinquand, Julie Bruneau, Virginie Verkarre, Ludovic Lhermitte, Marion Alcantara, Patrick Villarese, Bertrand Meresse, David Sibon, Olivier Hermine, Nicole Brousse, Thierry Molina, Christophe Cellier, Nadine Cerf-Bensussan, Georgia Malamut, Elizabeth Macintyre
p111–122
Published online: September 27, 2018


An Optimized Workflow to Evaluate Estrogen Receptor Gene Mutations in Small Amounts of Cell-Free DNA
Silvia R. Vitale, Anieta M. Sieuwerts, Nick Beije, Jaco Kraan, Lindsay Angus, Bianca Mostert, Esther A. Reijm, Ngoc M. Van, Ronald van Marion, Luc Y. Dirix, Paul Hamberg, Felix E. de Jongh, Agnes Jager, John A. Foekens, Paolo Vigneri, Stefan Sleijfer, Maurice P.H.M. Jansen, John W.M. Martens
p123–137
Published online: October 5, 2018


Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct
Yin-Hung Lin, Chen-Chi Wu, Yi-Hsin Lin, Ying-Chang Lu, Chih-Shan Chen, Tien-Chen Liu, Pei-Lung Chen, Chuan-Jen Hsu
p138–148
Published online: September 27, 2018

CME Program ArticleAccurate and Sensitive Analysis of Minimal Residual Disease in Acute Myeloid Leukemia Using Deep Sequencing of Single Nucleotide Variations
Erik Delsing Malmberg, Anna Rehammar, Mariana B. Pereira, Jonas Abrahamsson, Tore Samuelsson, Sara Ståhlman, Julia Asp, Anne Tierens, Lars Palmqvist, Erik Kristiansson, Linda Fogelstrand
p149–162
Published online: September 28, 2018


CME Program ArticleClinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies
Borahm Kim, Hyeonah Lee, Saeam Shin, Seung-Tae Lee, Jong Rak Choi
p163–170
Published online: October 19, 2018


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