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Dideoxy DNA sequencing

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

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, [ ... ], Karolin Meixenberger

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

Zhao Chen, Wei Ye, [ ... ], Hong Jiang

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

Alexandra Pender, Isaac Garcia-Murillas, [ ... ], Julian Downward

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

Bruno Maranhao, Pooja Biswas, [ ... ], Radha Ayyagari

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

Shyamala Iyer, Eleanor Casey, [ ... ], James I. Mullins

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

Hong Xia, Xiangjun Huang, [ ... ], Hao Deng

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

Karen N. McFarland, Jilin Liu, [ ... ], Tetsuo Ashizawa

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

Yanqiu Liu, Xiaoming Wei, [ ... ], Yun Yang

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, [ ... ], Frank R. Kloss

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing

Chrysanthia A. Leontiou, Michael D. Hadjidaniel, [ ... ], Philippos C. Patsalis

A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer

Liu Yang, Guosheng Wang, [ ... ], Shusen Zheng

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma

Joakim Crona, Viktor Ljungström, [ ... ], Peyman Björklund

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