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Next-generation sequencing

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

Paul Guéguen, Karen Rouault, [ ... ], Claude Férec

RNA-Seq Reveals Spliceosome and Proteasome Genes as Most Consistent Transcripts in Human Cancer Cells

Tara MacRae, Tobias Sargeant, [ ... ], Guy Sauvageau

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

Eriko Koshimizu, Satoko Miyatake, [ ... ], Naomichi Matsumoto

Mutagenic and Cytotoxic Properties of Oxidation Products of 5-Methylcytosine Revealed by Next-Generation Sequencing

Xi-Wen Xing, Yu-Li Liu, [ ... ], Bi-Feng Yuan

Improved Inference of Taxonomic Richness from Environmental DNA

Matthew J. Morgan, Anthony A. Chariton, [ ... ], Christopher M. Hardy

DistMap: A Toolkit for Distributed Short Read Mapping on a Hadoop Cluster

Ram Vinay Pandey, Christian Schlötterer

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

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

Optimization of De Novo Short Read Assembly of Seabuckthorn (Hippophae rhamnoides L.) Transcriptome

Rajesh Ghangal, Saurabh Chaudhary, [ ... ], Prakash Chand Sharma

Time- and Cost-Efficient Identification of T-DNA Insertion Sites through Targeted Genomic Sequencing

Étienne Lepage, Éric Zampini, Brian Boyle, Normand Brisson

Validation of Next Generation Sequencing Technologies in Comparison to Current Diagnostic Gold Standards for BRAF, EGFR and KRAS Mutational Analysis

Clare M. McCourt, Darragh G. McArt, [ ... ], Manuel Salto-Tellez

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

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

Advantages of Single-Molecule Real-Time Sequencing in High-GC Content Genomes

Seung Chul Shin, Do Hwan Ahn, [ ... ], Hyun Park

A Microfluidic DNA Library Preparation Platform for Next-Generation Sequencing

Hanyoup Kim, Mais J. Jebrail, [ ... ], Kamlesh D. Patel

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