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Next-generation sequencing

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

Danilo Licastro, Margherita Mutarelli, Ivana Peluso, Kornelia Neveling, Nienke Wieskamp, Rossella Rispoli, Diego Vozzi, Emmanouil Athanasakis, Angela D'Eustacchio, Mariateresa Pizzo, Francesca D'Amico, Carmela Ziviello, Francesca Simonelli, Antonella Fabretto, Hans Scheffer, Paolo Gasparini, Sandro Banfi, Vincenzo Nigro

published 29 Aug 2012

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A Deletion in the Bovine FANCI Gene Compromises Fertility by Causing Fetal Death and Brachyspina

Carole Charlier, Jorgen Steen Agerholm, Wouter Coppieters, Peter Karlskov-Mortensen, Wanbo Li, Gerben de Jong, Corinne Fasquelle, Latifa Karim, Susanna Cirera, Nadine Cambisano, Naima Ahariz, Erik Mullaart, Michel Georges, Merete Fredholm

published 29 Aug 2012

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Transferring the Characteristics of Naturally Occurring and Biased Antibody Repertoires to Human Antibody Libraries by Trapping CDRH3 Sequences

Sophie Venet, Ulla Ravn, Vanessa Buatois, Franck Gueneau, Sébastien Calloud, Marie Kosco-Vilbois, Nicolas Fischer

published 24 Aug 2012

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An Improved Protocol for Sequencing of Repetitive Genomic Regions and Structural Variations Using Mutagenesis and Next Generation Sequencing

Botond Sipos, Tim Massingham, Adrian M. Stütz, Nick Goldman

published 17 Aug 2012

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Mutation Discovery in Regions of Segmental Cancer Genome Amplifications with CoNAn-SNV: A Mixture Model for Next Generation Sequencing of Tumors

Anamaria Crisan, Rodrigo Goya, Gavin Ha, Jiarui Ding, Leah M. Prentice, Arusha Oloumi, Janine Senz, Thomas Zeng, Kane Tse, Allen Delaney, Marco A. Marra, David G. Huntsman, Martin Hirst, Sam Aparicio, Sohrab Shah

published 16 Aug 2012

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Estimates of Genetic Differentiation Measured by F_ST Do Not Necessarily Require Large Sample Sizes When Using Many SNP Markers

Eva-Maria Willing, Christine Dreyer, Cock van Oosterhout

published 14 Aug 2012

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SAP—A Sequence Mapping and Analyzing Program for Long Sequence Reads Alignment and Accurate Variants Discovery

Zheng Sun, Weidong Tian

published 07 Aug 2012

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Optimized PCR Conditions and Increased shRNA Fold Representation Improve Reproducibility of Pooled shRNA Screens

Žaklina Strezoska, Abel Licon, Josh Haimes, Katie Jansen Spayd, Kruti M. Patel, Kevin Sullivan, Katarzyna Jastrzebski, Kaylene J. Simpson, Devin Leake, Anja van Brabant Smith, Annaleen Vermeulen

published 01 Aug 2012

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Complex Mutations & Subpopulations of Deletions at Exon 19 of EGFR in NSCLC Revealed by Next Generation Sequencing: Potential Clinical Implications

Antonio Marchetti, Maela Del Grammastro, Giampaolo Filice, Lara Felicioni, Giulio Rossi, Paolo Graziano, Giuliana Sartori, Alvaro Leone, Sara Malatesta, Michele Iacono, Luigi Guetti, Patrizia Viola, Felice Mucilli, Franco Cuccurullo, Fiamma Buttitta

published 27 Jul 2012

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DNase SISPA-Next Generation Sequencing Confirms Schmallenberg Virus in Belgian Field Samples and Identifies Genetic Variation in Europe

Toon Rosseel, Matthias Scheuch, Dirk Höper, Nick De Regge, Ann Brigitte Caij, Frank Vandenbussche, Steven Van Borm

published 27 Jul 2012

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SNP Calling, Genotype Calling, and Sample Allele Frequency Estimation from New-Generation Sequencing Data

Rasmus Nielsen, Thorfinn Korneliussen, Anders Albrechtsen, Yingrui Li, Jun Wang

published 24 Jul 2012

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High-Throughput Multilocus Sequence Typing: Bringing Molecular Typing to the Next Level

Stefan A. Boers, Wil A. van der Reijden, Ruud Jansen

published 18 Jul 2012

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The Cervical Microbiome over 7 Years and a Comparison of Methodologies for Its Characterization

Benjamin C. Smith, Thomas McAndrew, Zigui Chen, Ariana Harari, David M. Barris, Shankar Viswanathan, Ana Cecilia Rodriguez, Phillip Castle, Rolando Herrero, Mark Schiffman, Robert D. Burk

published 09 Jul 2012

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