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Dideoxy DNA sequencing

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

Julien Philippe, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Aurélie Dechaume, Iandry Rabearivelo, Véronique Dhennin, Martine Vaxillaire, Franck De Graeve, Olivier Sand, Philippe Froguel, Amélie Bonnefond

published 23 Nov 2015

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Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus

Chantal E. Hargreaves, Chisako Iriyama, Matthew J. J. Rose-Zerilli, Sietse Q. Nagelkerke, Khiyam Hussain, Rosalind Ganderton, Charlotte Lee, Lee R. Machado, Edward J. Hollox, Helen Parker, Kate V. Latham, Taco W. Kuijpers, Kathleen N. Potter, Sarah E. Coupland, Andrew Davies, Michael Stackpole, Melanie Oates, Andrew R. Pettitt, Martin J. Glennie, Mark S. Cragg, Jonathan C. Strefford

published 06 Nov 2015

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Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

Ji-Hye Park, Margaux Sevin, Selim Ramla, Aurélie Truffot, Tiffany Verrier, Dominique Bouchot, Martine Courtois, Mathilde Bas, Sonia Benali, François Bailly, Bernardine Favre, Julien Guy, Laurent Martin, Marc Maynadié, Serge Carillo, François Girodon

published 26 Oct 2015

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Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog

James A. C. Oliver, Oliver P. Forman, Louise Pettitt, Cathryn S. Mellersh

published 16 Oct 2015

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Comparison of 454 Ultra-Deep Sequencing and Allele-Specific Real-Time PCR with Regard to the Detection of Emerging Drug-Resistant Minor HIV-1 Variants after Antiretroviral Prophylaxis for Vertical Transmission

Andrea Hauser, Claudia Kuecherer, Andrea Kunz, Piotr Wojtek Dabrowski, Aleksandar Radonić, Andreas Nitsche, Stefanie Theuring, Norbert Bannert, Julius Sewangi, Paulina Mbezi, Festo Dugange, Gundel Harms, Karolin Meixenberger

published 15 Oct 2015

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Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Zhao Chen, Wei Ye, Zhe Long, Dongxue Ding, Huirong Peng, Xuan Hou, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang

published 06 Oct 2015

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Efficient Genotyping of KRAS Mutant Non-Small Cell Lung Cancer Using a Multiplexed Droplet Digital PCR Approach

Alexandra Pender, Isaac Garcia-Murillas, Sareena Rana, Rosalind J. Cutts, Gavin Kelly, Kerry Fenwick, Iwanka Kozarewa, David Gonzalez de Castro, Jaishree Bhosle, Mary O’Brien, Nicholas C. Turner, Sanjay Popat, Julian Downward

published 28 Sep 2015

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Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Bruno Maranhao, Pooja Biswas, Alexander D. H. Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N. Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S. Amer Riazuddin, J. Fielding Hejtmancik, Radha Ayyagari

published 09 Sep 2015

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Comparison of Major and Minor Viral SNPs Identified through Single Template Sequencing and Pyrosequencing in Acute HIV-1 Infection

Shyamala Iyer, Eleanor Casey, Heather Bouzek, Moon Kim, Wenjie Deng, Brendan B. Larsen, Hong Zhao, Roger E. Bumgarner, Morgane Rolland, James I. Mullins

published 28 Aug 2015

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Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Hong Xia, Xiangjun Huang, Yi Guo, Pengzhi Hu, Guangxiang He, Xiong Deng, Hongbo Xu, Zhijian Yang, Hao Deng

published 26 Aug 2015

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SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure

Karen N. McFarland, Jilin Liu, Ivette Landrian, Ronald Godiska, Savita Shanker, Fahong Yu, William G. Farmerie, Tetsuo Ashizawa

published 21 Aug 2015

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang

published 14 Aug 2015

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Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma

Anita Kloss-Brandstätter, Hansi Weissensteiner, Gertraud Erhart, Georg Schäfer, Lukas Forer, Sebastian Schönherr, Dominic Pacher, Christof Seifarth, Andrea Stöckl, Liane Fendt, Irma Sottsas, Helmut Klocker, Christian W. Huck, Michael Rasse, Florian Kronenberg, Frank R. Kloss

published 11 Aug 2015

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