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Gene sequencing

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

Rajshekhar Chatterjee, Mary Hoffman, [ ... ], Sanjay Jain

ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation

Seung-been Lee, Jong-Yeon Shin, [ ... ], Jeong-Sun Seo

Genotypic and Phenotypic Applications for the Differentiation and Species-Level Identification of Achromobacter for Clinical Diagnoses

Margarita Gomila, Claudia Prince-Manzano, [ ... ], Edward R. B. Moore

The Bias Associated with Amplicon Sequencing Does Not Affect the Quantitative Assessment of Bacterial Community Dynamics

Federico M. Ibarbalz, María Victoria Pérez, Eva L. M. Figuerola, Leonardo Erijman

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

Maggie Brett, John McPherson, [ ... ], Ene-Choo Tan

Phenotypic and Molecular Characterization of Extended-Spectrum Beta-Lactamase-Producing Escherichia coli in Bangladesh

Taslima T. Lina, Bijay K. Khajanchi, [ ... ], Kaisar A. Talukder

Simplified Large-Scale Sanger Genome Sequencing for Influenza A/H3N2 Virus

Hong Kai Lee, Julian Wei-Tze Tang, Debra Han-Lin Kong, Evelyn Siew-Chuan Koay

The Utility of Shallow RNA-Seq for Documenting Differential Gene Expression in Genes with High and Low Levels of Expression

Joel Atallah, David C. Plachetzki, W. Cameron Jasper, Brian R. Johnson

Viridans Group Streptococci Clinical Isolates: MALDI-TOF Mass Spectrometry versus Gene Sequence-Based Identification

Silvia Angeletti, Giordano Dicuonzo, [ ... ], Lucia De Florio

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Xiu-Feng Huang, Ping Xiang, [ ... ], Zi-Bing Jin

Technical adequacy of bisulfite sequencing and pyrosequencing for detection of mitochondrial DNA methylation: Sources and avoidance of false-positive detection

Chie Owa, Matthew Poulin, Liying Yan, Toshi Shioda

Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss

Yali Zhao, Feifan Zhao, [ ... ], Qiuju Wang

Identification of Clinically Relevant Fungi and Prototheca Species by rRNA Gene Sequencing and Multilocus PCR Coupled with Electrospray Ionization Mass Spectrometry

Xuan Wang, Yong-Feng Fu, [ ... ], Li-Ping Zhu

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