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Next-generation sequencing

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Yafang Hu, Haishan Jiang, Qun Wang, Zuoshan Xie, Suyue Pan

published 18 Feb 2013

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Simultaneous Mapping of Multiple Gene Loci with Pooled Segregants

Jürgen Claesen, Lieven Clement, Ziv Shkedy, Maria R. Foulquié-Moreno, Tomasz Burzykowski

published 18 Feb 2013

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Pyrosequencing Dried Blood Spots Reveals Differences in HIV Drug Resistance between Treatment Naïve and Experienced Patients

Hezhao Ji, Yang Li, Binhua Liang, Richard Pilon, Paul MacPherson, Michèle Bergeron, John Kim, Morag Graham, Gary Van Domselaar, Paul Sandstrom, James Brooks

published 07 Feb 2013

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On Combining Reference Data to Improve Imputation Accuracy

Jun Chen, Ji-Gang Zhang, Jian Li, Yu-Fang Pei, Hong-Wen Deng

published 30 Jan 2013

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Discovery and Validation of Barrett's Esophagus MicroRNA Transcriptome by Next Generation Sequencing

Ajay Bansal, In-Hee Lee, Xiaoman Hong, Sharad C. Mathur, Ossama Tawfik, Amit Rastogi, Navtej Buttar, Mahesh Visvanathan, Prateek Sharma, Lane K. Christenson

published 23 Jan 2013

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Unveiling Distribution Patterns of Freshwater Phytoplankton by a Next Generation Sequencing Based Approach

Alexander Eiler, Stina Drakare, Stefan Bertilsson, Jakob Pernthaler, Sari Peura, Carina Rofner, Karel Simek, Yang Yang, Petr Znachor, Eva S. Lindström

published 22 Jan 2013

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RNA-Seq for Enrichment and Analysis of IRF5 Transcript Expression in SLE

Rivka C. Stone, Peicheng Du, Di Feng, Kopal Dhawan, Lars Rönnblom, Maija-Leena Eloranta, Robert Donnelly, Betsy J. Barnes

published 18 Jan 2013

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HeurAA: Accurate and Fast Detection of Genetic Variations with a Novel Heuristic Amplicon Aligner Program for Next Generation Sequencing

Lőrinc S. Pongor, Ferenc Pintér, István Peták

published 18 Jan 2013

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Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis

Seungbok Lee, Seung Hwan Paik, Hyun-Jin Kim, Hyeong Ho Ryu, Soeun Cha, Seong Jin Jo, Hee Chul Eun, Jeong-Sun Seo, Jong-Il Kim, Oh Sang Kwon

published 11 Jan 2013

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Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn, Lisa Mari Keong, Anne Rutkowski, Susan Sparks, Carsten Bonnemann, Madhuri Hegde

published 11 Jan 2013

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Reevaluating Assembly Evaluations with Feature Response Curves: GAGE and Assemblathons

Francesco Vezzi, Giuseppe Narzisi, Bud Mishra

published 28 Dec 2012

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A Model-Based Clustering Method for Genomic Structural Variant Prediction and Genotyping Using Paired-End Sequencing Data

Matthew Hayes, Yoon Soo Pyon, Jing Li

published 27 Dec 2012

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FastUniq: A Fast De Novo Duplicates Removal Tool for Paired Short Reads

Haibin Xu, Xiang Luo, Jun Qian, Xiaohui Pang, Jingyuan Song, Guangrui Qian, Jinhui Chen, Shilin Chen

published 20 Dec 2012

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