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Dideoxy DNA sequencing

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain

published 10 Oct 2013

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Mitochondrial Sequence Variation in African-American Primary Open-Angle Glaucoma Patients

David W. Collins, Harini V. Gudiseva, Benjamin T. Trachtman, Matthew Jerrehian, Thomasine Gorry, William T. Merritt III, Allison L. Rhodes, Prithvi S. Sankar, Meredith Regina, Eydie Miller-Ellis, Joan M. O’Brien

published 01 Oct 2013

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Variant Callers for Next-Generation Sequencing Data: A Comparison Study

Xiangtao Liu, Shizhong Han, Zuoheng Wang, Joel Gelernter, Bao-Zhu Yang

published 27 Sep 2013

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Quality Score Based Identification and Correction of Pyrosequencing Errors

Shyamala Iyer, Heather Bouzek, Wenjie Deng, Brendan Larsen, Eleanor Casey, James I. Mullins

published 05 Sep 2013

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Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Feng Zhang, Jinlong Liang, Xiong Guo, Yingang Zhang, Yan Wen, Qiang Li, Zengtie Zhang, Weijuan Ma, Lanlan Dai, Xuanzhu Liu, Ling Yang, Jun Wang

published 29 Aug 2013

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Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

Byung Yoon Choi, Gibeom Park, Jungsoo Gim, Ah Reum Kim, Bong-Jik Kim, Hyo-Sang Kim, Joo Hyun Park, Taesung Park, Seung-Ha Oh, Kyu-Hee Han, Woong-Yang Park

published 22 Aug 2013

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Quasispecies Analysis of JC Virus DNA Present in Urine of Healthy Subjects

Tom Van Loy, Kim Thys, Luc Tritsmans, Lieven J. Stuyver

published 15 Aug 2013

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Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio, Naoyuki Kamatani, Shin-ichi Usami

published 13 Aug 2013

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Inter- and Intra-Host Viral Diversity in a Large Seasonal DENV2 Outbreak

Camila Malta Romano, Michael Lauck, Felipe S. Salvador, Célia Rodrigues Lima, Lucy S. Villas-Boas, Evaldo Stanislau A. Araújo, José Eduardo Levi, Claudio Sergio Pannuti, David O’Connor, Esper Georges Kallas

published 02 Aug 2013

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PCR-Induced Transitions Are the Major Source of Error in Cleaned Ultra-Deep Pyrosequencing Data

Johanna Brodin, Mattias Mild, Charlotte Hedskog, Ellen Sherwood, Thomas Leitner, Björn Andersson, Jan Albert

published 23 Jul 2013

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Sensitive Assessment of the Virologic Outcomes of Stopping and Restarting Non-Nucleoside Reverse Transcriptase Inhibitor-Based Antiretroviral Therapy

Anna Maria Geretti, Zoe Fox, Jeffrey A. Johnson, Clare Booth, Jonathan Lipscomb, Lieven J. Stuyver, Gilda Tachedjian, John Baxter, Giota Touloumi, Clara Lehmann, Andrew Owen, Andrew Phillips, for the INSIGHT Strategies for Management of Antiretroviral Therapy (SMART) Study Group

published 18 Jul 2013

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NRAS and BRAF Mutations in Melanoma-Associated Nevi and Uninvolved Nevi

Philipp Tschandl, Anna Sophie Berghoff, Matthias Preusser, Sebastian Burgstaller-Muehlbacher, Hubert Pehamberger, Ichiro Okamoto, Harald Kittler

published 08 Jul 2013

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Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

Xinzhong Li, Andrew J. Buckton, Samuel L. Wilkinson, Shibu John, Roddy Walsh, Tomas Novotny, Iveta Valaskova, Manu Gupta, Laurence Game, Paul J R. Barton, Stuart A. Cook, James S. Ware

published 04 Jul 2013

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