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Next-generation sequencing

A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

Marjo K. Hytönen, Meharji Arumilli, Anu K. Lappalainen, Heli Kallio, Marjatta Snellman, Kirsi Sainio, Hannes Lohi

published 05 Jul 2012

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Consensus Rules in Variant Detection from Next-Generation Sequencing Data

Peilin Jia, Fei Li, Jufeng Xia, Haiquan Chen, Hongbin Ji, William Pao, Zhongming Zhao

published 08 Jun 2012

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Next-Generation Sequencing Reveals Significant Bacterial Diversity of Botrytized Wine

Nicholas A. Bokulich, C. M. Lucy Joseph, Greg Allen, Andrew K. Benson, David A. Mills

published 01 May 2012

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High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in Autism

Raymond J. Kelleher III, Ute Geigenmüller, Hayk Hovhannisyan, Edwin Trautman, Robert Pinard, Barbara Rathmell, Randall Carpenter, David Margulies

published 27 Apr 2012

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Discovery of Novel MicroRNAs in Rat Kidney Using Next Generation Sequencing and Microarray Validation

Fanxue Meng, Michael Hackenberg, Zhiguang Li, Jian Yan, Tao Chen

published 28 Mar 2012

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Evaluating Characteristics of De Novo Assembly Software on 454 Transcriptome Data: A Simulation Approach

Marvin Mundry, Erich Bornberg-Bauer, Michael Sammeth, Philine G. D. Feulner

published 27 Feb 2012

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Direct Comparisons of Illumina vs. Roche 454 Sequencing Technologies on the Same Microbial Community DNA Sample

Chengwei Luo, Despina Tsementzi, Nikos Kyrpides, Timothy Read, Konstantinos T. Konstantinidis

published 10 Feb 2012

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Feature-by-Feature – Evaluating De Novo Sequence Assembly

Francesco Vezzi, Giuseppe Narzisi, Bud Mishra

published 03 Feb 2012

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CAPRG: Sequence Assembling Pipeline for Next Generation Sequencing of Non-Model Organisms

Arun Rawat, Mohamed O. Elasri, Kurt A. Gust, Glover George, Don Pham, Leona D. Scanlan, Chris Vulpe, Edward J. Perkins

published 03 Feb 2012

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NGS QC Toolkit: A Toolkit for Quality Control of Next Generation Sequencing Data

Ravi K. Patel, Mukesh Jain

published 01 Feb 2012

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Customisation of the Exome Data Analysis Pipeline Using a Combinatorial Approach

Swetansu Pattnaik, Srividya Vaidyanathan, Durgad G. Pooja, Sa Deepak, Binay Panda

published 06 Jan 2012

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IQSeq: Integrated Isoform Quantification Analysis Based on Next-Generation Sequencing

Jiang Du, Jing Leng, Lukas Habegger, Andrea Sboner, Drew McDermott, Mark Gerstein

published 06 Jan 2012

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Probing the SELEX Process with Next-Generation Sequencing

Tatjana Schütze, Barbara Wilhelm, Nicole Greiner, Hannsjörg Braun, Franziska Peter, Mario Mörl, Volker A. Erdmann, Hans Lehrach, Zoltán Konthur, Marcus Menger, Peter F. Arndt, Jörn Glökler

published 29 Dec 2011

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