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Database and informatics methods

SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

Maria Fischer, Rene Snajder, Stephan Pabinger, Andreas Dander, Anna Schossig, Johannes Zschocke, Zlatko Trajanoski, Gernot Stocker

published 01 Aug 2012

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong

published 01 Aug 2012

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Crystal Structures of the Network-Forming Short-Arm Tips of the Laminin β1 and γ1 Chains

Federico Carafoli, Sadaf-Ahmahni Hussain, Erhard Hohenester

published 31 Jul 2012

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Synthetic Spike-in Standards Improve Run-Specific Systematic Error Analysis for DNA and RNA Sequencing

Justin M. Zook, Daniel Samarov, Jennifer McDaniel, Shurjo K. Sen, Marc Salit

published 31 Jul 2012

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Warburg Effect’s Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue

Stephanie M. J. Fliedner, Nina Kaludercic, Xiao-Sheng Jiang, Hana Hansikova, Zuzana Hajkova, Jana Sladkova, Andrea Limpuangthip, Peter S. Backlund, Robert Wesley, Lucia Martiniova, Ivana Jochmanova, Nikoletta K. Lendvai, Jan Breza, Alfred L. Yergey, Nazareno Paolocci, Arthur S. Tischler, Jiri Zeman, Forbes D. Porter, Hendrik Lehnert, Karel Pacak

published 31 Jul 2012

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Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Erich Roessler, Ping Hu, Sung-Kook Hong, Kshitij Srivastava, Blake Carrington, Raman Sood, Hanna Petrykowska, Laura Elnitski, Lucilene A. Ribeiro, Antonio Richieri-Costa, Benjamin Feldman, Ward F. Odenwald, Maximilian Muenke

published 31 Jul 2012

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Comparative Transcriptional Analysis of Clinically Relevant Heat Stress Response in Clostridium difficile Strain 630

Nigel G. Ternan, Shailesh Jain, Malay Srivastava, Geoff McMullan

published 30 Jul 2012

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A Genomic Island in Salmonella enterica ssp. salamae Provides New Insights on the Genealogy of the Locus of Enterocyte Effacement

P. Scott Chandry, Simon Gladman, Sean C. Moore, Torsten Seemann, Keith A. Crandall, Narelle Fegan

published 30 Jul 2012

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Analyzing Multi-locus Plant Barcoding Datasets with a Composition Vector Method Based on Adjustable Weighted Distance

Chi Pang Li, Zu Guo Yu, Guo Sheng Han, Ka Hou Chu

published 27 Jul 2012

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Medulloblastoma Exosome Proteomics Yield Functional Roles for Extracellular Vesicles

Laura M. Epple, Steve G. Griffiths, Anjelika M. Dechkovskaia, Nathaniel L. Dusto, Jason White, Rodney J. Ouellette, Thomas J. Anchordoquy, Lynne T. Bemis, Michael W. Graner

published 27 Jul 2012

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Next-Generation Sequencing of the Porcine Skeletal Muscle Transcriptome for Computational Prediction of MicroRNA Gene Targets

Tara G. McDaneld, Tim P. L. Smith, Gregory P. Harhay, Ralph T. Wiedmann

published 27 Jul 2012

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Comprehensive Mutation Analysis in Colorectal Flat Adenomas

Quirinus J. M. Voorham, Beatriz Carvalho, Angela J. Spiertz, Bart Claes, Sandra Mongera, Nicole C. T. van Grieken, Heike Grabsch, Martin Kliment, Bjorn Rembacken, Mark A. van de Wiel, Philip Quirke, Chris J. J. Mulder, Diether Lambrechts, Manon van Engeland, Gerrit A. Meijer

published 27 Jul 2012

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Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

Koji M. Nishiguchi, Carlo Rivolta

published 27 Jul 2012

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