PURPOSE Tumor genotyping is a powerful tool for guiding non-small cell lung cancer (NSCLC) care; however, comprehensive tumor genotyping can be logistically cumbersome. To facilitate genotyping, we developed a next-generation sequencing (NGS) assay using a desktop sequencer to detect actionable mutations and rearrangements in cell-free plasma DNA (cfDNA). EXPERIMENTAL DESIGN An NGS panel was ...

INTRODUCTION Transmitted drug-resistance mutations (TDRM) may hamper successful anti-HIV-1 therapy and impact future control of the HIV-1 epidemic. Recently infected, therapy-naïve individuals are best suited for surveillance of such TDRM. In this study, TDRM, detected by next-generation sequencing (NGS) were compared to those identified by Sanger-based population sequencing (SBS) in recently i...

Radiant Genomics and Labcyte have developed a low-volume, multiplexed next-generation sequencing (NGS) library preparation method using the Echo® 525 Liquid Handler. In addition to cost savings, we demonstrate an increase in sample-processing throughput with the Echo system due to efficient multiplexing, which would otherwise remain impractical using standard liquid handling automation. In addi...

2 In this work, we characterized the metagenome of a Malaysian mangrove soil sample via next 3 generation sequencing (NGS). Shotgun NGS data analysis revealed high diversity of microbes 4 from Bacteria and Archaea domains. The metabolic potential of the metagenome was 5 reconstructed using the NGS data and the SEED classification in MEGAN shows abundance of 6 virulence factor genes, implying th...

Next Generation Sequencing (NGS) has been a powerful tool to investigate gene networks in biological sciences [1]. Visualisation of data produced by NGS is essential for the interpretation of the findings by biological scientists. Here we describe a workflow to image findings from a NGS sequencing methodology to investigate gene expression that can be visualised with Circus software [2]. Visual...

Microdeletions at exon 19 are the most frequent genetic alterations affecting the Epidermal Growth Factor Receptor (EGFR) gene in non-small cell lung cancer (NSCLC) and they are strongly associated with response to treatment with tyrosine kinase inhibitors. A series of 116 NSCLC DNA samples investigated by Sanger Sequencing (SS), including 106 samples carrying exon 19 EGFR deletions and 10 with...

Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...

The clinical application of next-generation sequencing (NGS) as a diagnostic tool has become increasingly evident. The coupling of NGS technologies with new genomic sequence enrichment methods has made the sequencing of panels of target genes technically feasible, at the same time as making such an approach cost-effective for diagnostic applications. In this article, we discuss recent studies t...

Overview of NGS technology In the decade since the completion of the human genome project, DNA sequencing technology has changed considerably. The commercial availability of the first massively parallel pyrosequencing platform in 2005 led to a new era of high-throughput genomic analysis, now referred to as next-generation sequencing (NGS). NGS technologies use a fundamentally different approach...