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Dideoxy DNA sequencing

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

Maleeha Maria, Muhammad Ajmal, [ ... ], Frans P. M. Cremers

Genome Sequence of Erythromelalgia-Related Poxvirus Identifies it as an Ectromelia Virus Strain

Jorge D. Mendez-Rios, Craig A. Martens, [ ... ], Bernard Moss

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

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma

Joakim Crona, Viktor Ljungström, [ ... ], Peyman Björklund

MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics

Ram Vinay Pandey, Stephan Pabinger, Albert Kriegner, Andreas Weinhäusel

DNA Metabarcoding of Amazonian Ichthyoplankton Swarms

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

Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

Adrien Pagin, Aurore Devos, [ ... ], Guy Lalau

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

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

Simon L. Girard, Patrick A. Dion, [ ... ], Guy A. Rouleau

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

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

Genotyping of familial Mediterranean fever gene (MEFV)—Single nucleotide polymorphism—Comparison of Nanopore with conventional Sanger sequencing

Jonas Schmidt, Sandro Berghaus, [ ... ], Folker Wenzel

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Hui Huang, Yanhua Chen, [ ... ], Xin Yi

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

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