Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...

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...

The full arrival and broader availability of next-generation sequencing (NGS) is transforming the practice of medicine, including neurology. Compared with the traditional one-gene-at-a-time Sanger sequencing, NGS, or massively parallel sequencing, is a radically different approach to genetic sequencing. NGS allows for a large number of genes to be captured and sequenced in parallel, creating an...

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...

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...

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...

In vitro selection technology has transformed the development of therapeutic monoclonal antibodies. Using methods such as phage, ribosome, and yeast display, high affinity binders can be selected from diverse repertoires. Here, we review strategies for the next-generation sequencing (NGS) of phage- and other antibody-display libraries, as well as NGS platforms and analysis tools. Moreover, we d...

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 ...

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...