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Dideoxy DNA sequencing

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

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

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, [ ... ], Detlev Schindler

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

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

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

Rowida Almomani, Margherita Marchi, [ ... ], on behalf on the PROPANE Study Group

Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu, Kangmo Lu, [ ... ], Jian Huang

Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

Xiaobei Zhao, Anyou Wang, [ ... ], Stergios J. Moschos

HIV Drug Resistance Surveillance Using Pooled Pyrosequencing

Hezhao Ji, Nathalie Massé, [ ... ], James Brooks

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

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

Comprehensive Analysis to Improve the Validation Rate for Single Nucleotide Variants Detected by Next-Generation Sequencing

Mi-Hyun Park, Hwanseok Rhee, [ ... ], Soo Kyung Koo

Rapid Multi-Locus Sequence Typing Using Microfluidic Biochips

Timothy D. Read, Rosemary S. Turingan, [ ... ], Richard F. Selden

Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

Hong Liu, Yi Li, [ ... ], Furen Zhang

Genotyping on ALDH2: Comparison of Four Different Technologies

Lina Zhang, Jinzhao Zhao, [ ... ], Dao Wen Wang

Novel Exons and Splice Variants in the Human Antibody Heavy Chain Identified by Single Cell and Single Molecule Sequencing

Christopher Vollmers, Lolita Penland, Jad N. Kanbar, Stephen R. Quake

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