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[Journal Club] The Journal of Molecular Diagnostics: (Volume 21, Issue4)

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发表于 2019-6-23 05:35:22 | 显示全部楼层 |阅读模式
Editorial



Expanding the Scope of The Journal of Molecular Diagnostics to the Informatics Subdivision of the Association for Molecular Pathology
Alexis B. Carter, Barbara Zehnbauer


Reviews



Considerations for Genomic Data Privacy and Security when Working in the Cloud
Alexis B. Carter


Detection of Tumor NTRK Gene Fusions to Identify Patients Who May Benefit from Tyrosine Kinase (TRK) Inhibitor Therapy
Susan J. Hsiao, Ahmet Zehir, Anthony N. Sireci, Dara L. Aisner
Open Access

Technical Advance



Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell-Free Fetal DNA: Noninvasive Prenatal Diagnosis
Claudio Dello Russo, Anthony Cesta, Salvatore Longo, Maria A. Barone, Antonella Cima, Alvaro Mesoraca, Davide Sparacino, Antonella Viola, Claudio Giorlandino


Regular Articles



Multiplex Solid-Phase Melt Curve Analysis for the Point-of-Care Detection of HIV-1 Drug Resistance
Dana S. Clutter, Gelareh Mazarei, Ruma Sinha, Justen Manasa, Janin Nouhin, Ellen LaPrade, Sara Bolouki, Philip L. Tzou, Jessica Hannita-Hui, Malaya K. Sahoo, Peter Kuimelis, Robert G. Kuimelis, Benjamin A. Pinsky, Gary K. Schoolnik, Arjang Hassibi, Robert W. Shafer


An Effective Strategy to Eliminate Inherent Cross-Contamination in mtDNA Next-Generation Sequencing of Multiple Samples
Chun Yin, Yang Liu, Xu Guo, Deyang Li, Wan Fang, Jin Yang, Feng Zhou, Wancheng Niu, Yongfeng Jia, Hushan Yang, Jinliang Xing


Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories
Mahdi Ghani, Landry Nfonsam, Erinija Pranckeviciene, Hussein Daoud, Ryan Potter, Caitlin Chisholm, Patricia E. Harper, Audrey Schaffer, Leichelle Little, Elizabeth Sinclair-Bourque, Jean McGowan-Jordan, Amanda Smith, Lucas Bronicki, Olga Jarinova


Tumor Heterogeneity Index to Detect Human Epidermal Growth Factor Receptor 2 Amplification by Next-Generation Sequencing: A Direct Comparison Study with Immunohistochemistry
Sangjoon Choi, Jinah Chu, Binnari Kim, Sang Yun Ha, Seung Tae Kim, Jeeyun Lee, Won Ki Kang, Heewon Han, Insuk Sohn, Kyoung-Mee Kim


Detection of Single-Nucleotide Polymorphism Markers of Antimalarial Drug Resistance Directly from Whole Blood
Mindy Leelawong, Nicholas M. Adams, William E. Gabella, David W. Wright, Frederick R. Haselton


Clinical Validation of a Cell-Free DNA Gene Panel
Ju Cheng, Yi Cao, Allison MacLeay, Jochen K. Lennerz, Aymen Baig, Ryan P. Frazier, Jesse Lee, Krista Hu, Maciej Pacula, Enrique Meneses, Hayley Robinson, Julie M. Batten, Priscilla K. Brastianos, Rebecca S. Heist, Aditya Bardia, Long P. Le, A. John Iafrate


Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines
Cynthia L. Neben, Anjali D. Zimmer, Will Stedden, Jeroen van den Akker, Robert O'Connor, Raymond C. Chan, Elaine Chen, Zheng Tan, Annette Leon, Jack Ji, Scott Topper, Alicia Y. Zhou
Open Access

Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements
Hua-Jun He, Erica V. Stein, Yves Konigshofer, Thomas Forbes, Farol L. Tomson, Russell Garlick, Emiko Yamada, Tony Godfrey, Toshiya Abe, Koji Tamura, Michael Borges, Michael Goggins, Sandra Elmore, Margaret L. Gulley, Jessica L. Larson, Lando Ringel, Brian C. Haynes, Chris Karlovich, P. Mickey Williams, Aaron Garnett, Anders Ståhlberg, Stefan Filges, Lynn Sorbara, Mathew R. Young, Sudhir Srivastava, Kenneth D. Cole
Open Access

A Reference System for BRCA Mutation Detection Based on Next-Generation Sequencing in the Chinese Population
Shoufang Qu, Qiong Chen, Yuting Yi, Kang Shao, Wenxin Zhang, Yin Wang, Jian Bai, Xuchao Li, Zhiyuan Liu, Xiaowen Wang, Ruilin Jing, Yanfang Guan, Xin Yi, Miaoli Yan, Boyang Cao, Feng Chen, Shida Zhu, Xuexi Yang, Yingsong Wu, Jie Huang


Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania
Erin L. Crowgey, Michael C. Washburn, E. Anders Kolb, Erik G. Puffenberger
Open Access

Promoter Hypermethylation of Genes Encoding for RASSF/Hippo Pathway Members Reveals Specific Alteration Pattern in Diffuse Gliomas
Guénaëlle Levallet, Christian Creveuil, Lien Bekaert, Elodie Péres, Gaëtane Planchard, Sylvie Lecot-Cotigny, Jean-Sébastien Guillamo, Evelyne Emery, Gérard Zalcman, Emmanuèle Lechapt-Zalcman


Fixation Effects on Variant Calling in a Clinical Resequencing Panel
Jeremy D.K. Parker, Shyong Quin Yap, Elizabeth Starks, Jillian Slind, Lucas Swanson, T. Roderick Docking, Megan Fuller, Chen Zhou, Blair Walker, Douglas Filipenko, Wei Xiong, Ahmer A. Karimuddin, P. Terry Phang, Manoj Raval, Carl J. Brown, Aly Karsan


Analytical Validation of a Highly Sensitive, Multiplexed Chronic Myeloid Leukemia Monitoring System Targeting BCR-ABL1 RNA
Justin T. Brown, Ion J. Beldorth, Walairat Laosinchai-Wolf, Marie E. Fahey, Keri L. Jefferson, Adam K. Ruskin, Jacquelyn J. Roth, Li Cai, Christopher D. Watt, Richard D. Press, Fei Yang, John B. Hedges, Bernard F. Andruss


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