Next-Generation Sequencing–Based Detection of Germline Copy Number Variations in BRCA1/BRCA2
Ane Y. Schmidt, Thomas v.O. Hansen, Lise B. Ahlborn, Lars Jønson, Christina W. Yde, Finn C. Nielsen
Open Access
Regular Articles
Evaluation and Clinical Validation of Two Field–Deployable Reverse Transcription-Insulated Isothermal PCR Assays for the Detection of the Middle East Respiratory Syndrome–Coronavirus
Yun Young Go, Yeon-Sook Kim, Shinhye Cheon, Sangwoo Nam, Keun Bon Ku, Meehyein Kim, Nam Hyuk Cho, Hyun Park, Pei-Yu Alison Lee, Yu-Chun Lin, Yun-Long Tsai, Hwa-Tang Thomas Wang, Udeni B.R. Balasuriya
Improved Assays for AGG Interruptions in Fragile X Premutation Carriers
Bruce E. Hayward, Karen Usdin
Norovirus Loads in Stool Specimens of Cancer Patients with Norovirus Gastroenteritis
Taojun He, Tracy A. McMillen, Yuanyuan Qiu, Liang Hua Chen, Xuedong Lu, Xiao-Li Pang, Mini Kamboj, Yi-Wei Tang
Development of a Chromosomal Microarray Test for the Detection of Abnormalities in Formalin-Fixed, Paraffin-Embedded Products of Conception Specimens
Troy J. Gliem, Umut Aypar
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders
Erfan Aref-Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Siu, David Rodenhiser, Charles Schwartz, Bekim Sadikovic
Triplex High-Resolution Melting Assay for the Simultaneous Assessment of IFNL3 rs12979860, ABCB11 rs2287622, and RNF7 rs16851720 Genotypes in Chronic Hepatitis C Patients
Elena L. Enache, Anca Sin, Liviu S. Enache, Ligia Bancu
Next-Generation Sequencing
Snehal B. Patel, Wendy Kadi, Ann E. Walts, Alberto M. Marchevsky, Andy Pao, Angela Aguiluz, Tudor Mudalige, Zhenqui Liu, Nan Deng, Jean Lopategui
Molecular Signatures for Tumor Classification
Yasin Mamatjan, Sameer Agnihotri, Anna Goldenberg, Peter Tonge, Sheila Mansouri, Gelareh Zadeh, Kenneth Aldape
Determination of Molecular Subtypes of Diffuse Large B-Cell Lymphoma Using a Reverse Transcriptase Multiplex Ligation-Dependent Probe Amplification Classifier
Victor Bobée, Philippe Ruminy, Vinciane Marchand, Pierre-Julien Viailly, Ahmad Abdel Sater, Liana Veresezan, Fanny Drieux, Caroline Bérard, Elodie Bohers, Sylvain Mareschal, Sydney Dubois, Jean-Philippe Jais, Karen Leroy, Martin Figeac, Jean-Michel Picquenot, Thierry Jo Molina, Gilles Salles, Corinne Haioun, Hervé Tilly, Fabrice Jardin
Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels
Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref-Eshghi, Alan Stuart, C. Anthony Rupar, Paul Adams, Robert A. Hegele, Hanxin Lin, David Rodenhiser, Joan Knoll, Peter J. Ainsworth, Bekim Sadikovic
High-Throughput and Sensitive Quantification of Circulating Tumor DNA by Microfluidic-Based Multiplex PCR and Next-Generation Sequencing
Yinghui Guan, Oleg Mayba, Thomas Sandmann, Shan Lu, Younjeong Choi, Walter C. Darbonne, Vincent Leveque, Lisa Ryner, Eric Humke, Nga W.R. Tam, Sundari Sujathasarma, Anna Cheung, Richard Bourgon, Mark R. Lackner, Yulei Wang
Characterization and Genomic Localization of a SMAD4 Processed Pseudogene
Christopher M. Watson, Nick Camm, Laura A. Crinnion, Agne Antanaviciute, Julian Adlard, Alexander F. Markham, Ian M. Carr, Ruth Charlton, David T. Bonthron