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A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family
published 17 Sep 2013
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RNA-Seq Reveals Spliceosome and Proteasome Genes as Most Consistent Transcripts in Human Cancer Cells
published 17 Sep 2013
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Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder
published 16 Sep 2013
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Mutagenic and Cytotoxic Properties of Oxidation Products of 5-Methylcytosine Revealed by Next-Generation Sequencing
published 16 Sep 2013
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Improved Inference of Taxonomic Richness from Environmental DNA
published 26 Aug 2013
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DistMap: A Toolkit for Distributed Short Read Mapping on a Hadoop Cluster
published 23 Aug 2013
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Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss
published 22 Aug 2013
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Optimization of De Novo Short Read Assembly of Seabuckthorn (Hippophae rhamnoides L.) Transcriptome
published 21 Aug 2013
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Time- and Cost-Efficient Identification of T-DNA Insertion Sites through Targeted Genomic Sequencing
published 12 Aug 2013
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Validation of Next Generation Sequencing Technologies in Comparison to Current Diagnostic Gold Standards for BRAF, EGFR and KRAS Mutational Analysis
published 26 Jul 2013
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PCR-Induced Transitions Are the Major Source of Error in Cleaned Ultra-Deep Pyrosequencing Data
published 23 Jul 2013
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Advantages of Single-Molecule Real-Time Sequencing in High-GC Content Genomes
published 23 Jul 2013
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A Microfluidic DNA Library Preparation Platform for Next-Generation Sequencing
published 22 Jul 2013
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