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Dideoxy DNA sequencing

Deep sequencing is an appropriate tool for the selection of unique Hepatitis C virus (HCV) variants after single genomic amplification

Thibault Guinoiseau, Alain Moreau, [ ... ], Catherine Gaudy-Graffin

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison J. Cox, Benjamin W. Darbro, [ ... ], Polly J. Ferguson

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Denise Yan, Guangxin Xiang, [ ... ], Xue Zhong Liu

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing

Jun-Yu Zhang, Song-Chang Chen, [ ... ], Chen-Ming Xu

GLM-based optimization of NGS data analysis: A case study of Roche 454, Ion Torrent PGM and Illumina NextSeq sequencing data

Sarah Sandmann, Aniek O. de Graaf, [ ... ], Martin Dugas

Prognostic significance of SETBP1 mutations in myelodysplastic syndromes, chronic myelomonocytic leukemia, and chronic neutrophilic leukemia: A meta-analysis

Li-Hong Shou, Dan Cao, [ ... ], Bao-Lian Xu

Digital PCR Improves Mutation Analysis in Pancreas Fine Needle Aspiration Biopsy Specimens

Shonan Sho, Colin M. Court, [ ... ], James S. Tomlinson

DNA Metabarcoding of Amazonian Ichthyoplankton Swarms

M. E. Maggia, Y. Vigouroux, [ ... ], C. Mariac

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Constantia Aristidou, Costas Koufaris, [ ... ], Carolina Sismani

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Agnieszka Pollak, Urszula Lechowicz, [ ... ], Rafał Płoski

Identification of Immunoglobulin Gene Sequences from a Small Read Number of mRNA-Seq Using Hybridomas

Yuki Kuniyoshi, Kazumitsu Maehara, [ ... ], Yasuyuki Ohkawa

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

Robert J. Sicko, Marilyn L. Browne, [ ... ], James L. Mills

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

Neng-Li Wang, Yu-Lan Lu, [ ... ], Jian-She Wang

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