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[Journal Club] The Journal of Molecular Diagnostics: September 2017 (Volume 19, Issue 5)

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发表于 2017-8-24 09:14:32 | 显示全部楼层 |阅读模式

Technical Advances

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  A Strategy to Find Suitable Reference Genes for miRNA Quantitative PCR Analysis and Its Application to Cervical Specimens
Iris Babion, Barbara C. Snoek, Mark A. van de Wiel, Saskia M. Wilting, Renske D.M. Steenbergen

  High-Throughput, Multiplex Genotyping Directly from Blood or Dried Blood Spot without DNA Extraction for the Screening of Multiple G6PD Gene Variants at Risk for Drug-Induced Hemolysis
Xiaoyi Tian, Jun Zhou, Ye Zhao, Zhibin Cheng, Wenqi Song, Yu Sun, Xiaodong Sun, Zhi Zheng

  A Method to Evaluate the Quality of Clinical Gene-Panel Sequencing Data for Single-Nucleotide Variant Detection
Chung Lee, Joon S. Bae, Gyu H. Ryu, Nayoung K.D. Kim, Donghyun Park, Jongsuk Chung, Sungkyu Kyung, Je-Gun Joung, Hyun-Tae Shin, Seung-Ho Shin, Younglan Kim, Byung S. Kim, Hojun Lee, Kyoung-Mee Kim, Jung-Sun Kim, Woong-Yang Park, Dae-Soon Son
Open Access   
  Regular Articles

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  Digital Multiplex Ligation-Dependent Probe Amplification for Detection of Key Copy Number Alterations in T- and B-Cell Lymphoblastic Leukemia
Anne Benard-Slagter, Ilse Zondervan, Karel de Groot, Farzaneh Ghazavi, Virinder Sarhadi, Pieter Van Vlierberghe, Barbara De Moerloose, Claire Schwab, Kim Vettenranta, Christine J. Harrison, Sakari Knuutila, Jan Schouten, Tim Lammens, Suvi Savola
Open Access   
  Comparative Study and Analytical Verification of PCR Methods for the Diagnosis of Congenital Chagas Disease
Carolina I. Cura, Juan C. Ramírez, Marcelo Rodríguez, Constanza Lopez-Albízu, Lucía Irazu, Karenina Scollo, Sergio Sosa-Estani

  Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors
Julie W. Reeser, Dorrelyn Martin, Jharna Miya, Esko A. Kautto, Ezra Lyon, Eliot Zhu, Michele R. Wing, Amy Smith, Matthew Reeder, Eric Samorodnitsky, Hannah Parks, Karan R. Naik, Joseph Gozgit, Nicholas Nowacki, Kurtis D. Davies, Marileila Varella-Garcia, Lianbo Yu, Aharon G. Freud, Joshua Coleman, Dara L. Aisner, Sameek Roychowdhury

  Single-Color Digital PCR Provides High-Performance Detection of Cancer Mutations from Circulating DNA
Christina Wood-Bouwens, Billy T. Lau, Christine M. Handy, HoJoon Lee, Hanlee P. Ji
Open Access   
  A Method for Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with Leukemia
Ilaria S. Pagani, Chung H. Kok, Verity A. Saunders, Mark B. Van der Hoek, Susan L. Heatley, Anthony P. Schwarer, Christopher N. Hahn, Timothy P. Hughes, Deborah L. White, David M. Ross

  Molecular Analysis of Circulating Cell-Free DNA from Lung Cancer Patients in Routine Laboratory Practice
Stephan Bartels, Sascha Persing, Britta Hasemeier, Elisa Schipper, Hans Kreipe, Ulrich Lehmann

  GBA Analysis in Next-Generation Era
Stefania Zampieri, Silvia Cattarossi, Bruno Bembi, Andrea Dardis

  Development of HLA-B*57:01 Genotyping Real-Time PCR with Optimized Hydrolysis Probe Design
Hou-Sung Jung, Gregory J. Tsongalis, Joel A. Lefferts

  A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening
Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, Dimitar Gavrilov, Dietrich Matern, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Roshini S. Abraham, Devin Oglesbee

  CRISPR/Cas9 Technology–Based Xenograft Tumors as Candidate Reference Materials for Multiple EML4-ALK Rearrangements Testing
Rongxue Peng, Rui Zhang, Guigao Lin, Xin Yang, Ziyang Li, Kuo Zhang, Jiawei Zhang, Jinming Li

  Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing
Simon Garinet, Mario Néou, Bruno de La Villéon, Simon Faillot, Julien Sakat, Juliana P. Da Fonseca, Anne Jouinot, Christophe Le Tourneau, Maud Kamal, Windy Luscap-Rondof, Valentina Boeva, Sebastien Gaujoux, Michel Vidaud, Eric Pasmant, Franck Letourneur, Jérôme Bertherat, Guillaume Assié

  A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology
Marco Lucarelli, Luigi Porcaro, Alice Biffignandi, Lucy Costantino, Valentina Giannone, Luisella Alberti, Sabina Maria Bruno, Carlo Corbetta, Erminio Torresani, Carla Colombo, Manuela Seia
Open Access   
  Comparison of Blood Collection Tubes from Three Different Manufacturers for the Collection of Cell-Free DNA for Liquid Biopsy Mutation Testing
Christina Alidousty, Danielle Brandes, Carina Heydt, Svenja Wagener, Maike Wittersheim, Stephan C. Schäfer, Barbara Holz, Sabine Merkelbach-Bruse, Reinhard Büttner, Jana Fassunke, Anne M. Schultheis  

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发表于 2017-8-31 12:01:56 | 显示全部楼层
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