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Mutation detection

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

Gábor Kovács, Tibor Kalmár, Emőke Endreffy, Zoltán Ondrik, Béla Iványi, Csaba Rikker, Ibolya Haszon, Sándor Túri, Mária Sinkó, Csaba Bereczki, Zoltán Maróti

published 02 Mar 2016

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Dihydrofolate-Reductase Mutations in Plasmodium knowlesi Appear Unrelated to Selective Drug Pressure from Putative Human-To-Human Transmission in Sabah, Malaysia

Matthew J. Grigg, Bridget E. Barber, Jutta Marfurt, Mallika Imwong, Timothy William, Elspeth Bird, Kim A. Piera, Ammar Aziz, Usa Boonyuen, Christopher J. Drakeley, Jonathan Cox, Nicholas J. White, Qin Cheng, Tsin W. Yeo, Sarah Auburn, Nicholas M. Anstey

published 01 Mar 2016

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Optimised Pre-Analytical Methods Improve KRAS Mutation Detection in Circulating Tumour DNA (ctDNA) from Patients with Non-Small Cell Lung Cancer (NSCLC)

James L. Sherwood, Claire Corcoran, Helen Brown, Alan D. Sharpe, Milena Musilova, Alexander Kohlmann

published 26 Feb 2016

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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material

Wendy W. J. de Leng, Christa G. Gadellaa-van Hooijdonk, Françoise A. S. Barendregt-Smouter, Marco J. Koudijs, Ies Nijman, John W. J. Hinrichs, Edwin Cuppen, Stef van Lieshout, Robert D. Loberg, Maja de Jonge, Emile E. Voest, Roel A. de Weger, Neeltje Steeghs, Marlies H. G. Langenberg, Stefan Sleijfer, Stefan M. Willems, Martijn P. Lolkema

published 26 Feb 2016

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Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer

Douglas G. Ward, Laura Baxter, Naheema S. Gordon, Sascha Ott, Richard S. Savage, Andrew D. Beggs, Jonathan D. James, Jennifer Lickiss, Shaun Green, Yvonne Wallis, Wenbin Wei, Nicholas D. James, Maurice P. Zeegers, KK Cheng, Glenn M. Mathews, Prashant Patel, Michael Griffiths, Richard T. Bryan

published 22 Feb 2016

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Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

Adrien Pagin, Aurore Devos, Martin Figeac, Maryse Truant, Christelle Willoquaux, Franck Broly, Guy Lalau

published 22 Feb 2016

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Genotypic, Phenotypic and Clinical Validation of GeneXpert in Extra-Pulmonary and Pulmonary Tuberculosis in India

Urvashi B. Singh, Pooja Pandey, Girija Mehta, Anuj K. Bhatnagar, Anant Mohan, Vinay Goyal, Vineet Ahuja, Ranjani Ramachandran, Kuldeep S. Sachdeva, Jyotish C. Samantaray

published 19 Feb 2016

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HIV Drug Resistance Mutations (DRMs) Detected by Deep Sequencing in Virologic Failure Subjects on Therapy from Hunan Province, China

Xi Chen, Xiaobai Zou, Jianmei He, Jun Zheng, Jennifer Chiarella, Michael J. Kozal

published 19 Feb 2016

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The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations

Mariam Ibáñez, José Carbonell-Caballero, Luz García-Alonso, Esperanza Such, Jorge Jiménez-Almazán, Enrique Vidal, Eva Barragán, María López-Pavía, Marta LLop, Iván Martín, Inés Gómez-Seguí, Pau Montesinos, Miguel A. Sanz, Joaquín Dopazo, José Cervera

published 17 Feb 2016

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Development of Antibiotic Resistance during Simulated Treatment of Pseudomonas aeruginosa in Chemostats

Yanfang Feng, Caspar J. Hodiamont, Reinier M. van Hest, Stanley Brul, Constance Schultsz, Benno H. ter Kuile

published 12 Feb 2016

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Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Irene Flønes, Paweł Sztromwasser, Kristoffer Haugarvoll, Christian Dölle, Maria Lykouri, Thomas Schwarzlmüller, Inge Jonassen, Hrvoje Miletic, Stefan Johansson, Per M. Knappskog, Laurence A. Bindoff, Charalampos Tzoulis

published 10 Feb 2016

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Prevalence of Primary HIV Drug Resistance in Thailand Detected by Short Reverse Transcriptase Genotypic Resistance Assay

Sasisopin Kiertiburanakul, Subencha Pinsai, Wasun Chantratita, Ekawat Pasomsub, Manoon Leechawengwongs, Wilawan Thipmontree, Nirada Siriyakorn, Somnuek Sungkanuparph

published 01 Feb 2016

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On the Utility of Short Echo Time (TE) Single Voxel 1H–MRS in Non–Invasive Detection of 2–Hydroxyglutarate (2HG); Challenges and Potential Improvement Illustrated with Animal Models Using MRUI and LCModel

Hwon Heo, Sungjin Kim, Hyeong Hun Lee, Hye Rim Cho, Wen Jun Xu, Se-Hoon Lee, Chul-Kee Park, Sunghyouk Park, Seung Hong Choi, Hyeonjin Kim

published 28 Jan 2016

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