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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, [ ... ], Sanjay Jain

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

David W. Collins, Harini V. Gudiseva, [ ... ], Joan M. O’Brien

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

Xiangtao Liu, Shizhong Han, [ ... ], Bao-Zhu Yang

Quality Score Based Identification and Correction of Pyrosequencing Errors

Shyamala Iyer, Heather Bouzek, [ ... ], James I. Mullins

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

Feng Zhang, Jinlong Liang, [ ... ], Jun Wang

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

Byung Yoon Choi, Gibeom Park, [ ... ], Woong-Yang Park

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

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

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

Maiko Miyagawa, Takehiko Naito, [ ... ], Shin-ichi Usami

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

Camila Malta Romano, Michael Lauck, [ ... ], Esper Georges Kallas

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

Johanna Brodin, Mattias Mild, [ ... ], Jan Albert

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

Anna Maria Geretti, Zoe Fox, [ ... ], for the INSIGHT Strategies for Management of Antiretroviral Therapy (SMART) Study Group

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

Philipp Tschandl, Anna Sophie Berghoff, [ ... ], Harald Kittler

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

Xinzhong Li, Andrew J. Buckton, [ ... ], James S. Ware

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