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[Journal Club] The Journal of Molecular Diagnostics: July 2017 (Volume 19, Issue 4)

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发表于 2017-6-22 08:30:01 | 显示全部楼层 |阅读模式
Review

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  Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-

Kinase/AKT/Mammalian Target of Rapamycin Pathway
Gozde Akgumus, Fengqi Chang, Marilyn M. Li

  Commentary

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  NPM1 for MRD? Droplet Like It's Hot!
Gerald B.W. Wertheim, Adam Bagg

  Regular Articles

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  Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of

Multiple Inherited Cancer Predisposing Syndromes
Paula Paulo, Pedro Pinto, Ana Peixoto, Catarina Santos, Carla Pinto, Patrícia Rocha, Isabel

Veiga, Gabriela Soares, Catarina Machado, Fabiana Ramos, Manuel R. Teixeira

  Study of Preanalytic and Analytic Variables for Clinical Next-Generation Sequencing of

Circulating Cell-Free Nucleic Acid
Meenakshi Mehrotra, Rajesh R. Singh, Wei Chen, Richard S.P. Huang, Alaa A. Almohammedsalim,

Bedia A. Barkoh, Crystal M. Simien, Marcos Hernandez, Carmen Behrens, Keyur P. Patel, Mark

J. Routbort, Russell R. Broaddus, L. Jeffrey Medeiros, Ignacio I. Wistuba, Scott Kopetz,

Rajyalakshmi Luthra

  Technical Validation of a Next-Generation Sequencing Assay for Detecting Clinically

Relevant Levels of Breast Cancer–Related Single-Nucleotide Variants and Copy Number

Variants Using Simulated Cell-Free DNA
Xin Yang, Yuxing Chu, Rui Zhang, Yanxi Han, Lucheng Zhang, Yu Fu, Dan Li, Rongxue Peng,

Dongdong Li, Jiansheng Ding, Ziyang Li, Meiru Zhao, Kuo Zhang, Tian Lu, Lang Yi, Qisheng

Wu, Guigao Lin, Jiehong Xie, Tao Liu, Ling Yang, Xin Yi, Jinming Li

  Minimal Residual Disease Monitoring of Acute Myeloid Leukemia by Massively Multiplex

Digital PCR in Patients with NPM1 Mutations
Nuria Mencia-Trinchant, Yang Hu, Maria Antonina Alas, Fatima Ali, Bas J. Wouters, Sangmin

Lee, Ellen K. Ritchie, Pinkal Desai, Monica L. Guzman, Gail J. Roboz, Duane C. Hassane

  Highly Multiplex Real-Time PCR–Based Screening for Blood-Borne Pathogens on an OpenArray Platform
Elena Grigorenko, Carolyn Fisher, Sunali Patel, Valerie Winkelman, Phillip Williamson,

Caren Chancey, Germán Añez, Maria Rios, Victoria Majam, Sanjai Kumar, Robert Duncan

  Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the

eMERGE-PGx Study
Laura J. Rasmussen-Torvik, Berta Almoguera, Kimberly F. Doheny, Robert R. Freimuth, Adam S.

Gordon, Hakon Hakonarson, Jared B. Hawkins, Ammar Husami, Lynn C. Ivacic, Iftikhar J.

Kullo, Michael D. Linderman, Teri A. Manolio, Aniwaa Owusu Obeng, Renata Pellegrino,

Cynthia A. Prows, Marylyn D. Ritchie, Maureen E. Smith, Sarah C. Stallings, Wendy A. Wolf,

Kejian Zhang, Stuart A. Scott

  Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by

Real-Time PCR–Based Multicolor Melting Curve Analysis
Qiuying Huang, Xudong Wang, Ning Tang, Tizhen Yan, Ping Chen, Qingge Li



  Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using

Next-Generation Sequencing
Jean-Marc Rey, Vincent Ducros, Pascal Pujol, Qing Wang, Marie-Pierre Buisine, Hanaa

Aissaoui, Thierry Maudelonde, Sylviane Olschwang

  Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a

Multigene Next-Generation Sequencing Test
Bennett O.V. Shum, Ilya Henner, Daniele Belluoccio, Marcus J. Hinchcliffe

  Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-

Generation Sequencing Panel
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li,

Marilyn M. Li  


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