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Dideoxy DNA sequencing

DISSECT Method Using PNA-LNA Clamp Improves Detection of EGFR T790m Mutation

Minakshi Guha, Elena Castellanos-Rizaldos, G. Mike Makrigiorgos

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

Li Huang, Qingyan Zhang, [ ... ], Qingjiong Zhang

A Modified RNA-Seq Approach for Whole Genome Sequencing of RNA Viruses from Faecal and Blood Samples

Elizabeth M. Batty, T. H. Nicholas Wong, [ ... ], Paolo Piazza

MultiPSQ: A Software Solution for the Analysis of Diagnostic n-Plexed Pyrosequencing Reactions

Piotr Wojtek Dabrowski, Kati Schröder, Andreas Nitsche

Automated Universal BRAF State Detection within the Activation Segment in Skin Metastases by Pyrosequencing-Based Assay U-BRAF^V600

Alexander Skorokhod, Peter Helmbold, [ ... ], Roland Penzel

Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

Satoshi Narumi, Kumihiro Matsuo, [ ... ], Tomonobu Hasegawa

Identifying and Classifying Trait Linked Polymorphisms in Non-Reference Species by Walking Coloured de Bruijn Graphs

Richard M. Leggett, Ricardo H. Ramirez-Gonzalez, [ ... ], Daniel MacLean

Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

Atsushi Ishii, Yoshiaki Saito, [ ... ], Shinichi Hirose

An Improved Genotyping by Sequencing (GBS) Approach Offering Increased Versatility and Efficiency of SNP Discovery and Genotyping

Humira Sonah, Maxime Bastien, [ ... ], François Belzile

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, [ ... ], Madhuri Hegde

Comparison of Testing Methods for the Detection of BRAF V600E Mutations in Malignant Melanoma: Pre-Approval Validation Study of the Companion Diagnostic Test for Vemurafenib

Fernando Lopez-Rios, Barbara Angulo, [ ... ], David Gonzalez de Castro

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

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

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz-Horta, Duygu Duman, [ ... ], Mustafa Tekin

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