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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, [ ... ], Suyue Pan

Simultaneous Mapping of Multiple Gene Loci with Pooled Segregants

Jürgen Claesen, Lieven Clement, [ ... ], Tomasz Burzykowski

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

Hezhao Ji, Yang Li, [ ... ], James Brooks

On Combining Reference Data to Improve Imputation Accuracy

Jun Chen, Ji-Gang Zhang, [ ... ], Hong-Wen Deng

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

Ajay Bansal, In-Hee Lee, [ ... ], Lane K. Christenson

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

Alexander Eiler, Stina Drakare, [ ... ], Eva S. Lindström

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

Rivka C. Stone, Peicheng Du, [ ... ], Betsy J. Barnes

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

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

Seungbok Lee, Seung Hwan Paik, [ ... ], Oh Sang Kwon

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

C. Alexander Valencia, Arunkanth Ankala, [ ... ], Madhuri Hegde

Reevaluating Assembly Evaluations with Feature Response Curves: GAGE and Assemblathons

Francesco Vezzi, Giuseppe Narzisi, Bud Mishra

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

Matthew Hayes, Yoon Soo Pyon, Jing Li

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

Haibin Xu, Xiang Luo, [ ... ], Shilin Chen

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